home Preparations Connective tissue dysplasia in the infant. Connective tissue dysplasia: main clinical syndromes, diagnosis, treatment

Connective tissue dysplasia in the infant. Connective tissue dysplasia: main clinical syndromes, diagnosis, treatment

For citation: Tvorogova T.M., Vorobieva A.S. Undifferentiated dysplasia connective tissue from the standpoint of diselementosis in children and adolescents // RMJ. 2012. No. 24. S. 1215

The uniqueness of the structure and functions of the connective tissue creates conditions for the occurrence of a huge number of its anomalies and diseases caused by gene defects that have a certain type of inheritance, or due to the mutagenic effects of adverse factors. external environment in the fetal period (adverse environmental conditions, unbalanced nutrition, stress, etc.).

Connective tissue dysplasia (CTD) is a genetically determined violation of its development, characterized by defects in its basic substance and fibers. Currently, among the main causes of CTD, there are changes in the rate of synthesis and assembly of collagen and elastin, the synthesis of immature collagen, a violation of the structure of collagen and elastin fibers due to their insufficient cross-linking. This indicates that in CTD, connective tissue defects in their manifestations are very diverse.
These morphological disorders are based on hereditary or congenital mutations of genes that directly encode connective tissue structures, enzymes and their cofactors, as well as adverse factors external environment. IN last years Special attention attracted to the pathogenetic significance of diselementosis, in particular hypomagnesemia. In other words, DST is a multi-level process, since it can manifest itself at the gene level, at the level of an imbalance in enzymatic and protein metabolism, as well as at the level of disturbances in the homeostasis of individual macro- and microelements.
There are two groups of DST. The first group includes rare differentiated dysplasias with a known gene defect of a certain type of inheritance and with a clear clinical picture (Marfan syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta, etc.). These diseases are hereditary diseases collagen - collagenopathies.
The second group consists of undifferentiated DST (NDST), the most common in pediatric practice. Unlike differentiated dysplasia, UCTD is a genetically heterogeneous pathology caused by changes in the genome due to multifactorial effects on the fetus in utero. In the vast majority of cases, the gene defect in UCTD remains unidentified. The main characteristic of these dysplasias is wide range clinical manifestations without a definite clear clinical picture. UCTD is not a nosological unit, and there has not yet been a place for it in ICD-10.
A classification of external and internal signs (hair dryers) of UCCT has been developed. External signs subdivided into skeletal, skin, articular and minor developmental anomalies. TO internal signs include dysplastic changes on the part nervous system, visual analyzer, of cardio-vascular system, respiratory organs, abdominal cavity(Fig. 1).
It has been noted that the syndrome vegetative dystonia(VD) is one of the first to be formed and is a mandatory component of the DST. Symptoms autonomic dysfunction already observed in early age, and in adolescence observed in 78% of cases of UCTD. The severity of autonomic dysregulation increases in parallel with the clinical manifestations of dysplasia. In the formation of vegetative shifts in CTD, both genetic factors underlying the violation of biochemical processes in the connective tissue and the formation of abnormal connective tissue structures are important, which together changes functional state hypothalamus and leads to autonomic imbalance.
The features of CTD include the absence or weak severity of phenotypic signs of dysplasia at birth, even in cases of differentiated forms. In children with a genetically determined condition, markers of dysplasia appear gradually throughout life. Over the years, especially under unfavorable conditions (environmental conditions, nutrition, frequent intercurrent diseases, stress), the number of dysplastic signs and their severity increase progressively, because. initial changes in homeostasis are exacerbated by these environmental factors. First of all, this concerns the homeostasis of individual macro- and microelements that are directly involved in the synthesis of collagen, collagen and elastin fibers, as well as in the modulation of the activity of enzymes that determine the rate of synthesis and the quality of connective tissue structures.
This applies primarily to such macroelements as magnesium and calcium and essential microelements - copper, zinc, manganese, and conditionally essential - boron. Among the variety of metabolic functions of these elements in the body, one should single out their direct participation in the processes of collagen formation, as well as in the formation, normal development of the skeleton and maintaining its structure.
At present, the effect of magnesium deficiency on the structure of the connective and bone tissue, in particular, on collagen, elastin, proteoglycans, collagen fibers, as well as on the mineralization of the bone matrix. The available literature data indicate that the effect of magnesium deficiency on the connective tissue leads to a slowdown in the synthesis of all structural components, an increase in their degradation, which significantly worsens the mechanical characteristics of the tissue.
Magnesium deficiency has no pathognomonic clinical signs. However, the polysymptomatic nature of this condition allows, based on the clinical picture, with a high degree of probability to suspect its deficiency in the patient.
Magnesium deficiency for several weeks can lead to pathology of the cardiovascular system, expressed as angiospasm, arterial hypertension, myocardial dystrophy, tachycardia, arrhythmia, an increase in the QT interval, a tendency to thrombosis; to neuropsychiatric disorders, manifested in the form of decreased attention, depression, fears, anxiety, autonomic dysfunction, dizziness, migraine, sleep disturbances, paresthesias, muscle cramps; visceral manifestations of deficiency include bronchospasm, laryngospasm, hyperkinetic diarrhea, spastic constipation, pylorospasm, nausea, vomiting, biliary dyskinesia, diffuse abdominal pain.
Chronic magnesium deficiency for several months or more, along with the above symptoms, is accompanied by a pronounced decrease in muscle tone, sharp asthenia, connective tissue dysplasia and osteopenia.
Due to its many clinical effects, magnesium is widely used as a medicinal product with various diseases.
The role of calcium and magnesium as the main elements involved in the formation of one of the types of connective tissue - bone tissue is well known. It has been proven that magnesium significantly improves the quality of bone tissue, because. its content in the skeleton is 59% of general content in the body (Fig. 2). It is known that magnesium directly affects the mineralization of the organic bone matrix, collagen formation, the functional state of bone cells, vitamin D metabolism, as well as the growth of hydroxyapatite crystals. In general, the strength and quality of connective tissue structures largely depend on the presence of a balance between calcium and magnesium. With magnesium deficiency and normal or elevated level calcium increases the activity of proteolytic enzymes - metalloproteinases - enzymes that cause remodeling (degradation) of collagen fibers, regardless of the reasons that caused abnormalities in the structure of the connective tissue, which leads to excessive degradation of the connective tissue, resulting in severe clinical manifestations NDCT.
The homeostasis of magnesium and calcium in the body depends on the adsorption of elements in the intestine, the process of reabsorption in renal tubules, hormonal regulation and from the diet, tk. the latter is the only source of their entry into the body.
Magnesium regulates the body's use of calcium. Insufficient intake of magnesium in the body leads to the deposition of calcium not only in the bones, but also in soft tissues And various bodies. Excess food intake rich in magnesium, disrupts the absorption of calcium and causes increased excretion. The ratio of magnesium and calcium is the main proportion of the body, and this must be taken into account in the recommendations to the patient on rational nutrition. The amount of magnesium in the diet should be 1/3 of the calcium content (on average, 350-400 mg of magnesium per 1000 mg of calcium).
Held in recent decades fundamental research trace elements revealed their importance in the biochemical processes underlying the formation of connective tissue. It has been proven that many trace elements are integral components of enzyme systems, the activity of which determines the metabolism of connective tissue, the processes of synthesis and remodeling of its structural components.
Copper determines the activity of the enzyme lysyl oxidase, which is involved in the formation of cross-links of collagen and/or elastin chains, which gives the connective tissue matrix maturity, firmness and elastic properties. Zinc is necessary for the functioning of many metalloenzymes that regulate collagen remodeling in connective and bone tissues. Manganese activates a number of enzymes that are directly involved in the synthesis of the main connective tissue proteins - proteoglycans and collagen, i.e. those proteins that determine the growth and structure of bone, cartilage, connective tissues in the body.
The role of boron is significant in the processes of osteogenesis, due to its effect on the metabolism of vitamin D, as well as the regulation of the activity of parathyroid hormone, which is known to be responsible for the exchange of calcium, phosphorus and magnesium.
In the clinical aspect, the literature data concerning the study of trace elements in children and adolescents are mainly devoted to the study of microelementoses under the influence of various factors. environment, as well as with disharmonious physical development, pathology urinary system, chronic diseases gastroduodenal zone, atopic dermatitis, somatovegetative and neuropsychiatric disorders, organic pathology of the central nervous system. Studies conducted by American scientists have shown that a deficiency of elements such as copper, boron, manganese, zinc and magnesium leads to an increase in the number of bone deformities. It was noted that over the past 10 years, the frequency of the above pathology has increased by 46.96%.
In the literature search for information on the study of a complex of microelements directly involved in the formation of the structural components of the connective tissue and osteogenesis (boron, copper, manganese, zinc), we failed to find in DST. There is only a single study of the balance of individual trace elements (boron, zinc) in dysplastic-dependent connective tissue pathology in children.
60 children and adolescents aged 9-17 years hospitalized in the somatic department of the Tushinskaya Children's City Hospital in Moscow for VD were examined by random sampling. The examined children and adolescents were divided into two groups depending on the presence of UCTD. The main group consisted of 30 patients with UCTD (Group 1), the comparison group consisted of 30 people who had no signs of CTD (Group 2). External and somatic signs of UCTD in the examined patients of the 1st group are shown in Table 1.
Our studies of a complex of microelements in hair (boron, copper, manganese, zinc), calcium content in urine, bone mineral density (BMD) revealed pronounced changes in elemental homeostasis in patients with UCTD. The average content of microelements in patients of the 1st and 2nd groups is shown in Table 2. Analysis of the data obtained showed that in patients of the 1st group there was an imbalance in the microelement status, which was characterized by significant changes in the studied microelements (p<0,05). При этом отмечено значимое снижение содержания бора и марганца, сочетающееся с повышением уровня меди и цинка. Во 2-й группе определялась лишь тенденция к повышению меди и цинка в сочетании со снижением уровня марганца, содержание бора оставалось в норме.
The pronounced deficiency of boron and manganese in the 1st group and a significant decrease in manganese in the 2nd group can be explained not only by the low intake of microelements from food, but also by their dependence on the level of calcium and magnesium in the body. It is known that in children and adolescents during the period of active growth and the formation of peak bone mass, the rate of consumption of these macronutrients in the body increases. This may be one of the reasons for the pathological decrease in the absorption of other biologically active substances, in particular individual microelements (boron, manganese) and, accordingly, their deficiency in the body. In addition, there is a point of view that in case of magnesium deficiency, manganese is able to replace it in the active centers of individual enzymes involved in collagen synthesis and osteogenesis, and perform the same functions. From the foregoing, it follows that magnesium deficiency leads to a decrease in the content of manganese in the body.
The observed significant increase in the content of zinc and copper in the hair in patients of the 1st group is probably due to a decrease in the level of calcium in the body. There is evidence that calcium deficiency accelerates the rate of zinc accumulation in hair in children with UCTD. It is obvious that the threshold values of calcium intake lead to inhibition of the exchange of zinc and copper, because. their participation in the synthesis of collagen, the formation of bone tissue and other vital functions is possible only with an adequate supply of calcium to the body.
When determining the daily intake of calcium, its insufficient content in the diet in patients of the 1st and 2nd groups was revealed. The average daily intake of calcium in the 1st group was 425±35 mg, in the 2nd group - 440±60 mg, with the standard daily requirement at the age of 10-18 years 1200 mg.
There was a clear decrease in calcium excretion in the morning portion of urine in patients of the 1st group (1.2 + 0.02 mmol / l at a rate of 2.5-6.2), which is a reflection of a pronounced deficiency of the mineral in the body and suggests that the need for calcium in UCTD is much higher than in its absence.
Calcium deficiency was also confirmed by the results of a densitometric study, which revealed a decrease in bone mineralization in 18 patients of the 1st group and in 8 people from the 2nd group (Fig. 3). Analysis of the results showed that the degree of bone tissue demineralization corresponded to osteopenia, however, osteoporosis was diagnosed in 17% of adolescents in the 1st group. These adolescents did not have somatic diseases capable of causing a pathological decrease in bone mass, therefore, the identified osteoporosis was not considered as transient. The manifestation of UCTD in them was the maximum number of external phenotypic traits in combination with 2-3 somatic traits, the severity of shifts in the content of all four studied microelements drew attention.
Thus, the studies of calcium homeostasis are an argument confirming the effect of calcium deficiency on the formation of microelementosis, and dictate the need for calcium supplementation in balance with magnesium in patients with UCTD. Literature data and the results of our own research indicate the importance of diselementosis in the development of UCTD, and this probably allows us to consider CTD as one of the clinical variants of diselementosis.
From the foregoing, it follows that in order to eliminate connective tissue defects and prevent the progression of dysplasia, correction of diselementosis is necessary. Restoration of disturbed elemental homeostasis is achieved by rational nutrition, dosed physical activity, which improves the absorption of macro- and microelements, as well as the use of magnesium, calcium, microelements and vitamins. Food sources of magnesium, calcium and trace elements (manganese, copper, zinc, boron) are shown in Table 3.
Currently, UCTD therapy with magnesium-containing drugs is pathogenetically substantiated. Replenishment of magnesium deficiency in the body leads to a decrease in the activity of the above metalloproteinase enzymes and, accordingly, to a decrease in degradation and an acceleration of the synthesis of new collagen molecules. The results of magnesium therapy in children with UCTD (mainly with mitral valve prolapse, with arrhythmic syndrome on the background of autonomic dysfunction) showed their high efficiency.
In pediatric practice, various magnesium-containing preparations are widely used, differing in their chemical structure, the level of magnesium content and methods of administration.
The possibilities of prescribing inorganic magnesium salts for long-term oral therapy are limited due to the extremely low absorption in the gastrointestinal tract and the ability to cause diarrhea. In this regard, preference is given to an organic magnesium salt (a compound of magnesium with orotic acid), which is well adsorbed in the intestine, and only when high doses are used, a side effect in the form of an unstable stool is possible.
The magnesium salt of orotic acid is available in 500 mg tablets (32.8 mg of elemental magnesium) under the name Magnerot (Woerwag Pharma, Germany). The use of orotic magnesium salt is justified due to the fact that orotic acid is able to fix intracellular magnesium in mitochondria, where only in the presence of magnesium ions is it possible to synthesize ATP, which determines the functional state and viability of every cell in the body, including connective tissue. Moreover, orotic acid, participating in the synthesis of nucleic acids, has an anabolic effect by stimulating the synthesis of proteins, including the main proteins of connective tissue, in which it is synergistic with magnesium. The recommended doses of Magnerot according to age are presented in Table 4.
We evaluated the effectiveness of magnesium therapy in 24 children and adolescents, in whom one of the UCTD hair dryers was vegetative dystonia, which proceeded with cardiac changes. The duration of the course of treatment was 3 weeks.
The nature of the complaints was mostly non-specific, with fatigue, irritability, anxiety, emotional lability, headache, and difficulty falling asleep being the most common. Adolescents with VD of the sympathicotonic and mixed type had arterial hypertension of the 1st degree (in 9 people) and labile AH (in 5 people).
Cardiac complaints were minor and were expressed by short-term cardialgia in 25% of patients, palpitations - in 12.5%, a feeling of increased heart contractions that appeared at the time of physical exertion and during excitement, less often at rest - in 8% of patients. However, when analyzing the ECG, changes were detected in almost all subjects. During the examination, organic heart pathology and symptomatic hypertension were excluded. During the period of therapy, patients did not receive drugs that improve myocardial trophism, antiarrhythmic, antihypertensive and vegetotropic drugs.
After completion of the course of magnesium therapy, cardiac complaints completely disappeared, sleep returned to normal, manifestations of emotional and behavioral disorders decreased. The use of magnesium therapy was accompanied by a hypotensive effect in all patients with hypertension. Complete normalization of blood pressure occurred in 62% of cases. In 5 patients with 1st degree hypertension, only a tendency to decrease in blood pressure was noted.
When evaluating the ECG, a clear positive trend was revealed, expressed in the normalization of the T wave (66%), the complete disappearance of the U wave, a decrease in T wave inversion (14%), a change in T wave inversion to its flattening (9.5%), positive dynamics of sinus tachycardia with normalization of heart rate (62.5%), the disappearance of extrasystole, normalization of the QT interval, the absence of nonspecific depression of the ST segment. However, in 11.5% of patients, sinus tachycardia turned out to be torpid to the therapy. There was no significant ECG dynamics in bradyarrhythmia against the background of pacemaker migration in 8% of patients (Table 5).
Assessing the effectiveness of magnesium therapy for the correction of neurovegetative dysregulation in patients with UCTD, it can be concluded that the positive dynamics of psychoemotional disorders, ECG changes, up to the complete normalization of individual parameters, occurs with a 3-week course of treatment. However, with sinus tachycardia, impaired repolarization processes with T-wave inversion, stable arterial hypertension, longer treatment periods are required. If it is necessary to prescribe cardiotrophic, antihypertensive and vegetotropic drugs, magnesium preparations should be recommended as a component of combination therapy.
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Connective tissue dysplasia is a disease that affects the musculoskeletal system and internal organs. It occurs with equal frequency in adults and children. The clinical manifestations of this pathology are accompanied by symptoms that are characteristic of a number of other common diseases, which, when making a diagnosis, misleads even experienced specialists.

The treatment of connective tissue dysplasia should be started as soon as possible after the detection of pathology. This is the only way to avoid disability and live a full life, which is impossible for every tenth patient with an advanced form of this disease.

What provokes pathology

When faced with this diagnosis for the first time, most patients do not understand what it is about. In fact, connective tissue dysplasia is a disease that manifests itself with multiple symptoms and is provoked by a number of causes. In the predominant number of cases, the disease is transmitted genetically from relatives in a direct ascending line, arising due to failures in the natural processes of collagen synthesis. With dysplasia, almost all organs and the musculoskeletal system are affected.

Violations of the development of structural elements of the connective tissue inevitably lead to numerous changes. First, the symptoms appear from the side of the musculoskeletal system - the elements of the connective tissue are most widely represented there. As you know, in the structure of this material there are fibers, cells, and its density depends on their ratio. Throughout the body, connective tissue is loose, hard and elastic. In the formation of skin, bones, cartilage, and vessel walls, the main role belongs to collagen fibers, which predominate in the connective tissue and maintain its shape. The importance of elastin cannot be neglected - this substance provides contraction and relaxation of muscles.

Connective tissue dysplasia develops due to mutation of genes responsible for natural synthesis processes. Modifications can be very diverse, affecting any links of the DNA chain. As a result, the connective tissue structure, which consists mainly of elastin and collagen, is formed incorrectly, and structures formed with violations cannot withstand even average mechanical loads, stretch and weaken.

Differentiated varieties of the disease

Pathologies affecting the connective tissue of internal organs, joints and bones are conditionally divided into differentiated and undifferentiated forms of dysplasia. In the first case, an ailment is implied, which has characteristic symptoms and is manifested by well-studied gene or biochemical defects. Physicians have designated diseases of this kind with the general term "collagenopathy". This category includes the following pathological conditions:

Marfan syndrome. Patients with this disease are usually tall, have long arms and legs, and a curved spine. Violations can also occur with the organs of vision, up to retinal detachment and lens subluxation. In children, connective tissue dysplasia provokes the development of heart failure against the background of mitral valve prolapse.
Flaccid skin syndrome. This disease is less common than the previous one. Its specificity lies in the excessive stretching of the epidermis. In this type of collagenopathy, it is the elastin fibers that are affected. Pathology, as a rule, is hereditary.
Eilers-Danlo syndrome. A complex genetic disease, manifested by severe joint laxity. Such connective tissue dysplasia in adults leads to increased skin vulnerability and the formation of atrophic scars.
Imperfect osteogenesis. This is a whole complex of genetically determined pathologies that develop due to impaired bone formation. Due to the affected dysplasia, its density sharply decreases, which inevitably leads to fractures of the limbs, spine and joints, and in childhood - to slow growth, curvature of posture, and characteristic disabling deformities. Often, with damage to the bone tissue, the patient has problems in the work of the central nervous system, cardiovascular, excretory and respiratory systems.

undifferentiated form

To diagnose this type of dysplasia, it is sufficient that none of the patient's symptoms and complaints relate to differentiated collagenopathies. In children, connective tissue dysplasia of this type occurs in 80% of cases. In the risk group for the disease, in addition to babies, are young people under the age of 35 years.

What changes occur in the body

Connective tissue dysplasia can be suspected for a number of reasons. Patients with this diagnosis notice increased joint mobility and skin elasticity - this is the main symptom of the disease, which is characteristic of any form of collagenopathy and the undifferentiated form of the disease. In addition to these manifestations, the clinical picture can be supplemented by other disorders of the connective tissue:

skeletal deformities;
malocclusion;
flat feet;
vascular network.

More rare symptoms include abnormalities in the structure of the auricles, brittle teeth, and hernia formation. In a severe course of the disease, changes develop in the tissues of the internal organs. Dysplasia of the connective tissue of the heart, respiratory organs and abdominal cavity in most cases is preceded by the development of autonomic dystonia. Most often, dysfunction of the nervous autonomic system is observed at an early age.

Signs of connective tissue dysplasia become more pronounced gradually. At birth, children may have no phenotypic characteristics at all. However, this applies mainly to undifferentiated connective tissue dysplasia. With age, the disease becomes more active, and the rate of its progression depends largely on the ecological situation in the region of residence, the quality of nutrition, chronic illnesses, stress, and the degree of immune protection.

Symptoms

Dysplastic changes occurring in the connective tissues of the body have practically no obvious external signs. In many ways, the clinical manifestations are similar to the symptoms of various diseases encountered in pediatrics, gastroenterology, orthopedics, ophthalmology, rheumatology, pulmonology. Visually, a person with dysplasia may seem completely healthy, but at the same time, his appearance differs in a number of specific features. Conventionally, people with such a disease can be divided into two types: the first is tall, stooped, thin with protruding shoulder blades and collarbones, and the second is weak, fragile, small in stature.

Among the complaints that patients describe to the doctor, it is worth noting:

general weakness and malaise;
abdominal and headaches;
bloating, constipation, diarrhea;
increased blood pressure;
frequent relapses of chronic respiratory diseases;
muscle hypotension;
loss of appetite and weight loss;
shortness of breath with the slightest exertion.

Other symptoms also indicate connective tissue dysplasia. Adult patients have a predominantly asthenic physique, with prominent pathologies of the spine (scoliosis, kyphosis, lordosis), deformity of the chest or lower extremities (valgus foot). Often, people with dysplasia notice a disproportionate size of the foot or hand in relation to height. Joint hypermobility is also a sign of pathologically formed connective tissue. Children with dysplasia often demonstrate their “talents” to their peers: they bend their fingers 90 °, unbend the elbow or knee joint, painlessly pull the skin in the forehead, back of the hand and in other places.

Possible complications

The disease negatively affects the work of the whole organism and the well-being of a person. In children with dysplasia, the growth of the upper and lower jaws often slows down, disturbances occur in the functioning of the organs of vision (myopia, retinal angiopathy develops). On the part of the vascular system, complications are also possible in the form of varicose veins, increased fragility and permeability of the walls of blood vessels.

Diagnostic procedures

Experienced specialists are able to recognize the syndrome of connective tissue dysplasia after the first examination of the patient. However, to make an official diagnosis, the specialist will refer the patient to undergo a series of studies. Then, guided by the conclusions of experts and the results of the necessary tests, the doctor will be able to put an end to the definition of the disease and prescribe treatment.

A variety of symptoms of connective tissue dysplasia interfere with establishing the correct diagnosis. In addition to laboratory tests, the patient will have to undergo:

electromyography;
radiography.

Diagnosis of undifferentiated dysplasia can take a long time, as it requires a painstaking attitude and an integrated approach. First of all, the patient is assigned a genetic examination for mutations in specific genes. Often, doctors resort to the use of clinical and genealogical research (diagnosis of the patient's family members, history taking). In addition, the patient is usually recommended to undergo an examination of all internal organs in order to determine the degree of damage to the disease. The patient must measure the length of the body, individual segments and limbs, assess the mobility of the joints, the extensibility of the skin.

Nuances of therapy

Treatment of connective tissue dysplasia in adults and children is built according to a single principle. Modern science uses many ways to combat the progression of dysplasia syndrome, but in most cases they all come down to drug neutralization of symptoms or their elimination by surgical intervention. Undifferentiated connective tissue dysplasia is practically untreatable due to its multisymptomatic manifestation and the lack of clear criteria for diagnosis.

The drug course includes preparations containing magnesium - this microelement plays an important role in the process of collagen synthesis. In addition to vitamin-mineral complexes, the patient is prescribed funds that correct the functioning of internal organs (cardiotrophic, antiarrhythmic, vegetotropic, nootropic, beta-blockers).

Of no small importance in the treatment of such a disease as collagenopathy belongs to strengthening, maintaining the tone of muscle and bone tissues, and preventing the development of irreversible complications. Thanks to complex treatment, the patient has every chance to restore the functionality of internal organs and improve the quality of life.

In children, connective tissue dysplasia is usually treated conservatively. By regularly taking vitamins of group B and C, it is possible to stimulate the synthesis of collagen, which makes it possible to achieve regression of the disease. Doctors recommend that babies suffering from this pathology drink a course of magnesium- and copper-containing drugs, drugs that stabilize metabolism, increase the level of essential amino acids.

Surgical treatment and rehabilitation

As for the surgical operation, it is decided to switch to this radical method of treatment with pronounced symptoms of dysplasia that threaten the patient's life: prolapse of the heart valves of the second and third degree, deformity of the chest, intervertebral hernia.

For recovery, patients suffering from connective tissue dysplasia are recommended to undergo a course of therapeutic massage of the back, neck and shoulder area and limbs.

When diagnosed with a flat-valgus installation in a child, provoked by connective tissue dysplasia, you should contact an orthopedist. The doctor will prescribe the wearing of arch supports, daily gymnastics for the feet, baths with sea salt and massage of the limbs.

If a child complains of pain in the joints, it is necessary to choose shoes with the correct orthopedic sole for him. In toddlers, shoes should tightly fix the position of the heel, toe and ankle joint. In all orthopedic models, the back is made high and elastic, and the heel is no more than 1-1.5 cm.

With connective tissue dysplasia, it is fundamentally important to observe the daily routine: adults should allocate at least 7-8 hours for a night's sleep, and 10-12 hours of sound sleep are shown to children. At an early age, babies should rest during the day.

In the morning, it is advisable not to forget about elementary exercises - it is difficult to overestimate its benefits in such a disease. If there are no restrictions on sports, they should be practiced for life. However, professional training is contraindicated for children and adults and dysplasia. With hypermobility of the joints, degenerative-dystrophic changes in cartilage tissue, ligaments develop rapidly due to frequent trauma, microscopic hemorrhages. All this can lead to recurrent aseptic inflammation and the launch of degenerative processes.

An excellent effect is produced by swimming, skiing, cycling, badminton. Calm dosed walking during walks is useful. Daily physical education and non-professional sports increase the body's compensatory and adaptive capabilities.

There are such internal disorders that lead to the emergence of a whole bunch of diseases in different areas - from diseases of the joints to problems with the intestines, and connective tissue dysplasia is a prime example of them. Not every doctor is able to diagnose it, since in each case it is expressed by its own set of symptoms, so a person can unsuccessfully treat himself for years without suspecting what is happening inside him. Is this diagnosis dangerous and what measures should be taken?

What is connective tissue dysplasia

In a general sense, the Greek word "dysplasia" means a violation of education or development, which can be applied both to tissues and to internal organs in general. This problem is always congenital, since it appears in the prenatal period. If connective tissue dysplasia is mentioned, it means a genetically heterogeneous disease characterized by a disturbance in the development of connective tissue. The problem is polymorphic in nature, predominantly occurs at a young age.

In official medicine, the pathology of the development of connective tissue can also be found under the names:

hereditary collagenopathy;
hypermobility syndrome.

Symptoms

The number of signs of connective tissue disorders is so great that one by one the patient can associate them with any disease: the pathology is reflected in most of the internal systems - from the nervous to the cardiovascular, and even expressed as an unreasonable weight loss. Often, this type of dysplasia is detected only after external changes, or diagnostic measures taken by a doctor for other purposes.

Among the most striking and detected with a high frequency of signs of connective tissue disorders are:

Autonomic dysfunction, which can manifest itself in the form of panic attacks, tachycardia, fainting, depression, nervous exhaustion.
Heart valve problems, including prolapse, heart abnormalities, heart failure, myocardial pathology.
Asthenization - the patient's inability to subject himself to constant physical and mental stress, frequent psycho-emotional breakdowns.
X-shaped deformation of the legs.
Varicose veins, spider veins.
Joint hypermobility.
hyperventilation syndrome.
Frequent bloating due to digestive disorders, pancreatic dysfunction, problems with bile production.
Pain when trying to pull back the skin.
Problems with the immune system, vision.
Mesenchymal dystrophy.
Anomalies in the development of the jaw (including bite).
Flat feet, frequent dislocations of the joints.

Doctors are sure that people who have connective tissue dysplasia have psychological disorders in 80% of cases. The mild form is depression, a constant feeling of anxiety, low self-esteem, lack of ambition, dissatisfaction with the current state of affairs, reinforced by an unwillingness to change anything. However, even autism can coexist with a diagnosis of connective tissue dysplasia syndrome.

In children

At birth, a child may be deprived of phenotypic signs of connective tissue pathology, even if it is collagenopathy, which has vivid clinical manifestations. In the postnatal period, defects in the development of connective tissue are also not excluded, so such a diagnosis is rarely made for a newborn. The situation is also complicated by the natural state of connective tissue for children under 5 years old, due to which their skin stretches too much, ligaments are easily injured, and hypermobility of the joints is observed.

In children older than 5 years, with suspected dysplasia, you can see:

changes in the spine (kyphosis / scoliosis);
chest deformities;
poor muscle tone;
asymmetrical shoulder blades;
malocclusion;
fragility of bone tissue;
increased lumbar flexibility.

Causes

The basis of changes in the connective tissue is genetic mutations, therefore, its dysplasia in all forms can not be recognized as a disease: some of its manifestations do not worsen the quality of human life. Dysplastic syndrome is caused by changes in the genes that are responsible for the main protein that forms the connective tissue - collagen (less often - fibrillin). If a failure occurs during the formation of its fibers, they will not be able to withstand the load. Additionally, magnesium deficiency is not excluded as a factor in the appearance of such dysplasia.

Classification

Doctors today have not come to a consensus regarding the classification of connective tissue dysplasia: it can be divided into groups about the processes that occur with collagen, but this approach allows you to work only with hereditary dysplasia. The following classification is considered more universal:

A differentiated disorder of the connective tissue, which has an alternative name - collagenopathy. Dysplasia is hereditary, the signs are clear, the diagnosis of labor disease is not.
Undifferentiated connective tissue disorder - this group includes the remaining cases that cannot be attributed to differentiated dysplasia. The frequency of its diagnosis is many times higher, and in people of all ages. A person diagnosed with an undifferentiated connective tissue pathology often does not need treatment, but should be under medical supervision.

Diagnostics

A lot of controversial issues are associated with this kind of dysplasia, since specialists practice several scientific approaches in the issue of diagnosis. The only point that is beyond doubt is the need for clinical and genealogical research, since connective tissue defects are congenital. Additionally, to clarify the picture, the doctor will need:

systematize the patient's complaints;
measure the body by segments (for connective tissue dysplasia, their length is relevant);
evaluate joint mobility;
let the patient try to grasp his wrist with his thumb and little finger;
perform an echocardiogram.

Analyzes

Laboratory diagnosis of this type of dysplasia consists in studying a urine test for the level of hydroxyproline and glycosaminoglycans, substances that appear during the breakdown of collagen. Additionally, it makes sense to check the blood for frequent mutations in PLOD and general biochemistry (detailed analysis from a vein), metabolic processes in the connective tissue, markers of hormonal and mineral metabolism.

Which doctor treats connective tissue dysplasia

In children, the diagnosis and development of therapy (initial level) is carried out by the pediatrician, since there is no doctor who works exclusively with dysplasia. After that, the scheme is the same for people of all ages: if there are several manifestations of connective tissue pathology, you will need to take a treatment plan from a cardiologist, gastroenterologist, psychotherapist, etc.

Treatment of connective tissue dysplasia

There is no way to get rid of this diagnosis, since this type of dysplasia affects changes in the genes, however, complex measures can alleviate the patient's condition if he suffers from clinical manifestations of connective tissue pathology. The exacerbation prevention scheme is mainly practiced, which consists in:

well-chosen physical activity;
individual diet;
physiotherapy;
medical treatment;
psychiatric care.

It is recommended to resort to surgical intervention for this type of dysplasia only in case of chest deformity, serious disorders of the spine (especially the sacral, lumbar and cervical regions). The syndrome of connective tissue dysplasia in children requires additional normalization of the daily regimen, the selection of constant physical activity - swimming, cycling, skiing. However, a child with such dysplasia should not be given to professional sports.

Without the use of drugs

Doctors advise starting treatment with the exclusion of high physical exertion, hard work, including mental work. The patient needs to take a course of exercise therapy annually, if possible, having received a lesson plan from a specialist and performing the same actions on his own at home. Additionally, you will need to visit the hospital to undergo a set of physiotherapy procedures: ultraviolet irradiation, rubdowns, electrophoresis. It is not excluded the appointment of a corset that supports the neck. Depending on the psycho-emotional state, a visit to a psychotherapist may be prescribed.

For children with this type of dysplasia, the doctor prescribes:

Massage of the limbs and back with an emphasis on the cervical region. The procedure is carried out every six months, 15 sessions each.
Wearing an arch support if a hallux valgus is diagnosed.

Diet

The emphasis in the diet of a patient who has been diagnosed with connective tissue pathology is recommended by experts to be on protein foods, but this does not imply the complete exclusion of carbohydrates. The daily menu for dysplasia must necessarily consist of lean fish, seafood, legumes, cottage cheese and hard cheese, supplemented with vegetables, unsweetened fruits. In a small amount in the daily diet, you need to use nuts. If necessary, a vitamin complex can be prescribed, especially for children.

Taking medication

Drinking drugs should be under the supervision of a doctor, since there is no universal pill for dysplasia and it is impossible to predict the reaction of a particular organism even to the safest medication. Therapy to improve the condition of the connective tissue with its dysplasia may include:

Substances that stimulate the natural production of collagen - ascorbic acid, B-group vitamins and sources of magnesium (Magnerot).
Drugs that normalize the level of free amino acids in the blood - Glutamic acid, Glycine.
Means that help mineral metabolism - Alfacalcidol, Osteogenon.
Preparations for the catabolism of glycosaminoglycans, mainly on chondroitin sulfate - Rumalon, Chondroxide.

Surgical intervention

Due to the fact that this pathology of the connective tissue is not considered a disease, the doctor will recommend the operation if the patient suffers from deformation of the musculoskeletal system, or dysplasia can be fatal due to problems with the vessels. In children, surgical intervention is practiced less frequently than in adults, doctors try to get by with manual therapy.

Video

Connective tissue dysplasia in a child is a hereditary disease, which is characterized by a violation of the synthesis of collagen or fibrillin protein. The disease can manifest itself in the form of physical defects and disorders of the internal organs and systems of the body - genitourinary, respiratory, digestive and nervous.

About dysplasia and its causes

Connective tissue (CT) is present in all organs of the human body, but most of it is concentrated in the musculoskeletal system. It ensures normal joint mobility. It consists of:

different types of protein - collagen, elastin, fibrillin, etc.;
cells;
interstitial fluid.

Connective tissue has a different structure and density, it depends on which organ it is located in. Collagen gives density, and elastin makes tissues loose. Genes are responsible for the process of protein synthesis. When a violation occurs at the gene level, a mutation, collagen and elastin chains are formed incorrectly - their length decreases or increases. This leads to a deterioration in the properties of the connective tissue. As a result, it loses some of its properties and can no longer ensure the normal functioning of the joints.

So, connective tissue dysplasia is a genetic disease caused by the negative impact of various factors on the fetus developing in the womb. The causes of mutations include:

ecological situation;
mother's bad habits;
errors in nutrition during pregnancy;
chemical poisoning, intoxication;
stress;
lack of magnesium in the body of a pregnant woman;
toxicosis.

Disease classification

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There are two types of connective tissue dysplasia - differentiated and undifferentiated.

The first group includes studied gene mutations. In sick children, there are clearly signs of a certain syndrome:

Such pathologies are detected using genetic studies. The disorder often affects one or more organs. The disease poses a threat to the life of children. According to statistics, such genetic mutations are rare.

Undifferentiated CTD in children is a common occurrence. It is more difficult to identify such a pathology, since the CT of the whole body is subject to changes, and it is impossible to attribute the disease to one of the above syndromes. Patients have disorders in several organs and systems of the body at once:

To confirm the diagnosis of undifferentiated CTD in a person, it is necessary to find out whether the patient's symptoms and complaints are related to any syndrome caused by gene mutations. At risk are children and young women under the age of 35.

Symptoms of connective tissue dysplasia in children

CTD has so many different manifestations that they are often associated with other diseases when considered alone. Only a comprehensive study of the manifestations of the disease will help to recognize the true cause of poor health in a child. Symptoms of the disease are divided into 2 types: phenotypic and visceral.

Phenotypic symptoms

These manifestations include visible, external disturbances. Having found several signs of the disease in a child, one should go to the hospital and ask for an examination in order to exclude CTD. Phenotypic symptoms include:

A sick child may complain of the occurrence of pain when pulling the skin. Immunity in patients who suffer from CTD is low. Frequent colds they often turn into pneumonia and bronchitis.

Visceral symptoms

Visceral symptoms include those that cannot be immediately noticed, that is, they do not manifest themselves outwardly. This is where the danger lies - a disease not detected in time can cause irreversible changes in organs and systems. Visceral symptoms of connective tissue dysplasia include:

Observing such symptoms in a child, mothers turn to different doctors - an oculist, a neuropathologist, a pediatrician, an otolaryngologist, and if the heart hurts, then to a cardiologist. Each specialist treats in his own way, not taking into account symptoms that are not related to his area. This is the problem - the disease continues to progress, remaining undiagnosed. Detection of disorders in different body systems should suggest dysplasia.

Diagnostic methods

The diagnosis of CTD is made on the basis of a comprehensive examination of the child. The doctor examines the patient's history, and then conducts an examination. He assesses the degree of joint mobility, focusing on the Bayton scale, takes measurements of chest, head, foot and limb length.

If dysplasia is suspected, the pediatrician will refer a small patient to take blood and urine tests and undergo an additional examination.

Will have to do:

ECG to detect heart pathologies;
ultrasound examination of internal organs;
echocardiography;
x-ray of the joints and chest area.

The pediatrician should interact with narrow specialists - a cardiologist, pulmonologist, gastroenterologist, orthopedist and neuropathologist when making a diagnosis. If the results of the study confirm connective tissue dysplasia, appropriate therapy will be prescribed.

Treatment of the disease

Children diagnosed with CTD are treated comprehensively. Doctors recommend sticking to a diet in order to enrich the diet with protein foods. Fried, fatty foods, pickles are excluded from the menu; children are allowed to consume sweets in moderation. Enter into the diet:

Compliance with the daily regimen is a mandatory item in treatment. You need to sleep 8-9 hours a day.

The therapy also includes gymnastics. The patient is recommended to go swimming, table tennis or badminton. Weightlifting, stretching, boxing are inappropriate sports.

In addition, the child is prescribed physiotherapy. These include:

mud, hydrogen sulfide, iodine-bromine baths;
visiting the salt room;
massotherapy;
acupuncture.

Treatment of connective tissue dysplasia includes medication. They contribute to better collagen production, stimulate metabolic processes, strengthen the patient's immunity. List of drugs:

Individual patients are recommended to wear a bandage or insoles with an arch support. In adolescence, the child needs the help of a psychologist, because children are constantly under stress. It is important for parents to support them. In some cases, surgical intervention may be required when the vessels have undergone significant changes, as well as when the hip is dislocated.

Connective tissue dysplasia is not a sentence. With such a diagnosis, children live a normal life, but constant efforts are required so that the disease does not progress. It is important to undergo an annual examination and follow all the doctor's prescriptions, undergo treatment in a sanatorium.

Connective tissue dysplasia in children is a set of congenital syndromes in which, due to a violation in the formation of collagen fibers, the properties of the connective tissue of the body change. Some of the diseases associated with impaired development and formation of such tissue in the human body were discovered independently of each other and have a hereditary nature. Such pathologies are combined into two large groups:

Hereditary genetic syndromes - Marfan, Ehlers-Danlos, etc., which are considered to be differentiated dysplasias.
Diseases whose symptoms do not fit into the typical clinical picture of hereditary diseases, but are associated with connective tissue pathology - undifferentiated dysplasia.

Such a difference between these diseases is primarily due to the history of their first description and the severity of the characteristic symptoms. Hereditary pathologies of the connective tissue were discovered and described in children and adults as early as the end of the 19th century. Due to the fact that the changes in the body with such pathologies were very bright and obvious, the nominal names of such syndromes have been preserved in medicine.

A large number of diseases that had similar features, but did not fall under the classical description of the course of hereditary syndromes, were discovered during the 20th century. They were united according to the main symptom - the sign of "hypermobile joints". Therefore, they were classified as undifferentiated forms of dysplasia. However, the same symptom is characteristic of a number of rheumatological or autoimmune diseases. Because of this, the doctor necessarily conducts differential diagnostics with them, because. approaches to treatment and outcomes of such diseases are different.

Syndromes of connective tissue dysplasia are of great interest to medicine, since they can cause a large number of disorders in almost all organs and tissues of the child.

Connective tissue dysplasia in children occurs due to various mutations in the genes that are responsible for the synthesis and formation of connective tissue. Such tissue has a rather complex histological structure and consists of:

fibers (collagen and elastic);
fibroblasts (cells that synthesize such fibers);
intercellular substance formed by glycopeptides and proteoglycans.

It is on the ratio of the number of fibers and intercellular substance, as well as on their spatial organization in tissues, that the physical and sometimes functional properties of all histological structures in the body that contain them depend.

Connective tissue dysplasia plays a special role in the pathology of the cardiovascular system, and in particular the heart. The connective tissue forms its valves, as well as the superficial membranes of the vessels. Therefore, a change in its properties against the background of genetic mutations can lead not only to congenital heart defects, but also to sudden cardiac death syndrome in newborns.

In most cases, connective tissue dysplasia, at first glance, does not cause pronounced symptoms in a child, with the exception of excessive "flexibility" of the joints. But with a more detailed examination of the patient (most often this occurs during puberty), a number of clinical manifestations characteristic of this pathology are revealed.

Depending on the changes that the connective tissue undergoes in the organs of the child, the corresponding pathological processes are formed. Most often, they are either latent and asymptomatic, or manifest as severe congenital malformations of organs (malformations).

Usually, a combination of several changes in the body associated with connective tissue tells the doctor about the presence of dysplasia syndrome.

This suggests a number of pathological changes in the child. Such a suspicion requires additional and detailed diagnostics, and in some cases urgent treatment.

Clinical manifestations of connective tissue dysplasia

All the symptoms that develop with this genetically determined pathology are usually combined into groups depending on the organ system that has been affected.

Changes in the genes of each individual child are purely individual, so it is difficult to predict the development of which symptoms will be typical for him.

From the side of the nervous system, patients may experience:

disorders of the regulation of vascular tone (neurocirculatory dystonia);
episodes of panic attacks;
tendency to asthenia.

Such children usually get tired faster than anyone else, their working capacity and ability to learn quickly decrease for no apparent reason.

The musculoskeletal system, due to the fact that ligaments and tendons cannot provide adequate stability to the joints throughout the body, undergoes the most significant changes. The child may experience:

a tendency to curvature of the spinal column, which is difficult to correct;
development of flat feet;
asthenic physique;
chest deformities;
hypermobility of the joints in children (excessive mobility - higher than that which is characteristic of a particular articular joint).

With connective tissue dysplasia, pathologies of the cardiovascular system are most often noted. Such children tend to develop and form:

arterial aneurysms in any part of the body (they are especially dangerous in the brain);
varicose veins of the extremities and small pelvis.

With connective tissue dysplasia, valve prolapse in the heart is often diagnosed, which leads to symptoms of hemodynamic disturbances in the body. The shape of the heart can change under the influence of both deformation of the chest and spine, and due to changes in the pericardium or due to the presence of valvular defects. Such changes in the heart as a result of dysplasia often lead to disturbances in the rhythm of its work - arrhythmias.

Weakness of the bronchial wall, when bronchopulmonary dysplasia is observed in children, leads to:

expansion of their lumen (formation of bronchiectasis);
various forms of impaired ventilation of the lung tissue (obstructive, restrictive or mixed);
spontaneous pneumothorax (entry of air into the pleural cavity, which leads to compression of the lung), associated with ruptures of bronchiectasis, for example, during exercise.

Kidney dysplasia in children leads to prolapse of the organ, as well as the development of an expansion of the ureter and renal pelvis, which is accompanied by appropriate symptoms.

Diagnosis and treatment of pathology

Diagnosis of undifferentiated connective tissue dysplasia is a rather complicated process. This is due to the fact that developing clinical symptoms are very diverse, so it is not always possible to reliably place them within the framework of one disease. Accurate diagnosis of such a process is based on genetic analyzes that determine the group of mutant genes. But such a study is not always available to patients, and not all medical institutions can conduct such tests. Therefore, the diagnosis of "Connective Tissue Dysplasia Syndrome" in most cases is based on clinical symptoms. Identification of individual morphological changes in tissues and organs is carried out radiographically or due to ultrasonic, magnetic resonance research methods.

Treatment of connective tissue dysplasia in children is based on the presence of relevant symptoms and various pathological conditions. Unfortunately, since such a syndrome is caused precisely by genetic disorders in the cells, a complete cure for the child is impossible. Treatment of symptoms of dysplasia can be carried out both conservatively, eliminating subjective discomfort, and surgically, eliminating gross violations in the development and formation of organs and blood vessels.