home Audience 4 Connective tissue dysplasia: main clinical manifestations, complex therapy, prevention. Connective tissue dysplasia syndrome

Connective tissue dysplasia: main clinical manifestations, complex therapy, prevention. Connective tissue dysplasia syndrome

The child often gets sick, is treated by doctors of different specialties, and everyone finds a pathology. Genetic consultation is required. Dysplasia connective tissue in children, a common disease, affecting 50% of schoolchildren. The causes, diagnosis, treatment have not been sufficiently studied. Many doctors believe that pathology occurs in embryonic development.

Causes of the disease

Connective tissue dysplasia syndrome is damage to the structure, disruption of the functioning of organs and systems of the body due to genetically determined improper synthesis of proteins. The disease begins in the prenatal period and is a consequence of the following harmful effects on the body of a pregnant woman:

Work involving any type of radiation.
Smoking, drinking alcohol.
Food products with various chemical additives.
Medicines and cosmetics whose effects on pregnant women have not been studied.
Bad ecology.
Various diseases during pregnancy.

Types of connective tissue dysplasia in children

A well-studied isolated pathology, with a clearly defined clinical picture, known gene defects, and proven treatment methods, constitutes a group of differentiated dysplasias. These diseases are rare and well diagnosed genetic methods. Combinations of symptoms and syndromes with an uncertain mechanism of gene damage and the absence of a unified clinical picture are undifferentiated dysplasia. It occurs much more often, diagnosis is difficult due to the large number of symptoms.

Differentiated dysplasia

Diseases with a studied mechanism of development, clinical picture, diagnostic methods, treatment. These include:

Marfan syndrome is characterized by the presence of long fingers on the patient's hands.

Marfan syndrome. Characterized by tall stature, long fingers, visual impairment and of cardio-vascular system.
Ehlers-Danlos disease. Affects the skin, joints, small vessels.
Stickler syndrome. Causes diseases of the eyes, joints, muscle tissue.
Osteogenesis imperfecta, increased bone fragility.

Undifferentiated dysplasia

Systemic pathology of connective tissue, the gene defects of which are poorly studied, treatment is carried out by specialists from various medical specialties, taking into account the localization of the pathology. Main syndromes:

asthenic - muscle weakness, fatigue, depression;
minor heart anomalies - defect mitral valve, arrhythmia;
thoracic - keeled, funnel-shaped chest, spinal curvature;
- pathological mobility of bone joints.

Symptoms of dysplasia

The presence of connective tissue in all organs causes a large polymorphism in the clinical manifestations of the disease. Patients' complaints are general character, are not specific for dysplasia, including weakness, fatigue, headaches. The examination begins with measuring height and limb length. Conduct clinical tests:

When performing the test, the thumb easily extends beyond the palm when placed across it.

Thumb The brush is laid across the palm, with the nail protruding beyond its edge.
The little finger easily bends 90 degrees towards the forearm.
The patient, with fixed feet, reaches the floor with the entire plane of the palms, without bending the knees.
With the first and fifth fingers, the child clasps the wrist of the other hand.

Valuable information is obtained when examining a patient. In this case, the pediatrician already at the first examination reveals:

asthenic body type;
keeled deformity chest;
rachiocampsis;
depression of the sternum - “shoemaker's chest”;
saddle nose;
change in skull shape:
flat feet;
clubfoot;
pathology muscular system- atrophy, separation of the rectus abdominis muscles.

Diagnostic methods

Connective tissue dysplasia is not only a disease, it is the body’s reaction to action unfavorable factors external environment.

CT scans can help identify problems with bones and joints.

Important for diagnostics hereditary diseases and dysplasia has a method of genealogical analysis - identifying signs of pathology in relatives. Laboratory method allows you to determine the presence and amount of collagen breakdown products in the urine. These indicators are quite informative when diagnosing connective tissue dysplasia. Instrumental methods used to examine organs and systems of the body:

Radiation methods, radiography, computed tomography to identify pathology of the osseous-articular system.
Ultrasound is used for research internal organs, soft tissue diseases.
Endoscopic methods, including bronchoscopy, gastroscopy, cystoscopy, are used to examine the respiratory, digestive, genitourinary systems body.

Complement clinical picture research by doctors of other medical specialties. The ophthalmologist finds myopia and astigmatism in the child, the pulmonologist finds frequent bronchitis and pneumonia, the urologist finds a “wandering” kidney. The most serious, life-threatening changes that cause sudden death, a cardiologist identifies mitral valve disease, aortic stenosis, arrhythmia.

When you say to a patient with a knowing smile: “What’s surprising, you have connective tissue dysplasia,” you are already treating him. After all doctors before they said that everything was fine with him and that there were reasons for feeling unwell No. Just think - asthenia, scoliosis, flat feet... And then they finally make a diagnosis, do not consider him a neurasthenic and list the complaints before the patient himself remembers them. Just don’t overdo it, dysplasia is not a disease, it is a condition that predisposes to illness and worsens the quality of life. The patient needs to be explained at an accessible level that he is unlucky with connective tissue, but you know this condition and know how to deal with it.

I repeat once again: a thorough examination of the patient is mandatory! Even if you see that complaints indicate the functional nature of the disease, it is better to be safe. Associated pathology must be treated first and foremost; it is better to start rehabilitation in the absence of acute process, otherwise you will get confused in the assignments.

It is desirable, even necessary, that the treatment of connective tissue dysplasia occurs in institutions that specialize in this. We have two major rehabilitation centers- one of them at the cardiac dispensary. If there is no such institution, then patients will have to be transferred to clinics where free massage For children, there is a waiting list of six months, there is no physical therapy doctor or he does not know about connective tissue dysplasia, and the treatment will be unsystematic, and therefore meaningless.

We have already said that special tablets There is no connective tissue from dysplasia. It is impossible to get rid of dysplasia in an adult, you can only slow down the process and improve the quality of life, this is also a lot. The more confident, persistent and consistent you are, the greater effect get from the simplest activities.

Comprehensive treatment and prevention for connective tissue dysplasia include:

Non-drug therapy (selection of an adequate regimen, physiotherapy, physical and psychotherapy).
Diet therapy (nutrition, enriched with combinations of amino acids, lipids and other dietary supplements).
Drug therapy (correction metabolic disorders, aimed at stimulating collagen formation, stabilizing glycosaminoglycan metabolism, improving the bioenergetic state of the body, etc.).
Surgical correction of deformities of the musculoskeletal system and chest, as well as internal organs.

Non-drug treatment of connective tissue dysplasia.

Diet for connective tissue dysplasia.

Usually recommendations come down to what is needed. Pathological collagens break down instantly, so you need to eat a lot. Meat. Fish. Seafood. Soybeans and legumes in general. Strong broths and jellied dishes are useful. Dietary supplements with polyunsaturated fatty acids of the Omega class (Omega-3, Suprema Oil, Flex Seed Oil and the like) are approved by the Ministry of Health. They are recommended for potential giants, because... reduce the secretion of somatotropin, and there is no need to grow a dysplastic basketball player. Products with vitamin C, E and further on the list. Foods rich in calcium are best hard cheeses, fish and meat. Wash down lemon juice diluted 1:4 for absorption. We will give the rest of the microelements and vitamins as part of drug therapy.

Drug therapy for connective tissue dysplasia.

Pathogenetic drug therapy is of a replacement nature and is carried out in the following areas:

Stimulation of collagen formation
Correction of impaired synthesis and catabolism of glycosaminoglycans
Stabilization mineral metabolism
Correction of the level of free amino acids in the blood
Improving the bioenergetic state of the body

Let us briefly list the drugs for each direction.

Stimulation of collagen formation: Ascorbic acid, Vitamins B1, B2, B6, A nicotinic acid, Copper sulfate 1%, Zinc oxide, Zinc sulfate, Zinc chelate, Magnerot, Magne B6, Magnesium citrate, Vitreous body, Calcitrinin, L-carnitine, Carnitine chloride, solcoseryl.
Effect on glycosaminoglycan metabolism: Chondroitin sulfate, Structum, Chondroxide, DONA, Rumalon.
Stabilization of mineral metabolism: Ergocalciferol, Alfacalcidol, Oksidevit, Calcium D3-nycomed, Osteogenon, Calcium Upsavit.
Correction of the level of free amino acids in the blood: Methionine, Glutamic acid, Glycine, Acti-5-syrup, dietary supplements (Nutraminos, Meal-in-a-Glass, etc.). Potassium orotate and Retabolil are used separately for the absorption of amino acids.
Correction of the bioenergetic state of the body: Phosphaden, Riboxin, Acti-5-syrup, Mildronate, Lecithin, Limontar, Amber Elixir, etc.

Rehabilitation drug therapy is performed 1-3 times a year, depending on the patient’s condition; course duration is 1.5-2 months, under the control of clinical and, preferably, biochemical parameters. The break between courses is at least 2-2.5 months. The regimen uses one of the drugs from each direction, with repeat courses drugs change.

Courses of non-drug measures such as physiotherapy are more appropriate to use in the intervals between courses of drug rehabilitation.

Approximate drug therapy regimen:

1 course:

Ascorbic acid (in the absence of oxaluria and a family history of ICD) in the form of cocktails (with milk, yogurt, jelly, compote) at a dose of 1-4 g per day, depending on age, for 3 weeks.
DONA 1.5 g per day with meals, wash down big amount water, duration of administration - 1.5 months.
Succinic acid, 1-2 capsules 2 times a day for 3 weeks.

2nd year

Carnitine chloride, 20% solution, 1 tsp. 3 times a day (adults) for 4 weeks.
Structum, chondroitin sulfate 1.5-2.0 g with meals for 8 weeks.
Vitamin and mineral complexes such as "Vitrum", "Centrum" for 1 month.

3rd year

Acti-5 or other amino acid complex for 6 weeks.
Vitamin E 400-800 IU for 3 weeks.
Vitamin and mineral complexes for 3 weeks.

Surgical correction It is carried out in case of severe deformations of the chest and spine, and to a lesser extent - in case of prolapsed valves and vascular pathology.

Connective tissue is the basis of the entire organism. If its structure is violated pathological changes occur in all organs. Therefore, connective tissue dysplasia in children is complex and can masquerade as any other pathology. This makes diagnosis much more difficult.

The essence of pathology

Connective tissue dysplasia in children is not an independent pathology - it is a complex of congenital disorders that arise in the prenatal period. Connective tissue is found in almost all organs human body. It is of greatest importance in building the skeleton and ensuring motor function. Connective tissue consists mainly of collagen protein.

Dysplasia occurs when a genetic failure occurs during the formation of collagen fibers. As a result, the connective tissue loses its elasticity and extensibility.

Interesting!
The incidence of dysplasia varies between 6-9% among all newborns.

According to ICD 10, the disease is designated M35.7.

Causes

CTD in a child is a multifactorial disease. This means that for it to occur, the body must be affected by several causes simultaneously. The main predisposing factors include:

Bad habits of the mother during pregnancy;
Poor nutrition;
Unfavorable environmental conditions;
Severe gestosis in a pregnant woman;
Constant stress and physical exercise;
Some infectious diseases women during pregnancy.

The hereditary factor is of great importance.

Manifestations

Symptoms of connective tissue dysplasia in children are very numerous, since this tissue is present in all organs.

Nervous system:

Vegetative-vascular dystonia;
Problems with speech development;
Headache;
Increased sweating;
Urinary incontinence.

The cardiovascular system:

Congenital heart defects;
Aortic aneurysm;
Vascular underdevelopment;
Lability of blood pressure;
Heart failure.

Respiratory system:

Constant shortness of breath;
Bronchiectasis;
Pleurisy;
Underdevelopment of the lungs.

Musculoskeletal system:

Genitourinary system:

Kidney prolapse;
Anomalies collecting system kidney;
Underdevelopment of the ureters;
Urinary incontinence;
Disturbances in the development of the gonads;
Violation of the development of the uterus and ovaries.

Digestive tract:

Bowel dysfunction;
Underdevelopment of the intestines and esophagus.

Sense organs:

Strabismus;
Myopia;
Lens subluxation;
Astigmatism;
Hearing loss.

External manifestations:

Muscle dysplasia in children leads to the development of myasthenia gravis, a muscle weakness in which the child loses the ability to move.

Symptoms can occur separately, from only one group, or from several groups at the same time. Depending on this, there are two types of connective tissue dysplasia:

Differentiated. Damage to any one group of organs occurs. Such diseases include Marfan syndrome, scleroderma, cystic fibrosis;
Undifferentiated. Signs of dysplasia cannot be attributed to any one group.

Dysplasia of the musculoskeletal system in children is the most severe. This form of the disease leads to impaired motor function and changes in the functioning of internal organs.

Dysplasia hip joint manifested by the shortening of one of the baby’s legs and asymmetry of the buttock folds. The child cannot spread his bent legs to the sides. Children begin to walk late; their gait resembles that of a duck. The child gets tired quickly when walking, which can cause pain.

For dysplasia knee joint deformation develops kneecap. The child complains of pain when walking and fatigue. Dislocations and subluxations of the joint often occur. When the ankle joint is affected, clubfoot and flat feet develop. The child often twists his legs when walking.

Diagnostics

The process of diagnosing dysplasia in children is quite complex. Various methods are used to make a diagnosis:

CT and MRI;
Electromyography;
Radiography.

These techniques allow you to assess the degree of changes in connective tissue. To confirm the diagnosis, genetic studies are carried out to identify abnormalities in collagen formation.

Treatment

It is used to treat connective tissue dysplasia in children. A complex approach. Opportunities even modern medicine do not allow the restoration of genetic disorders, so all treatment is symptomatic.

Diet

Proper nutrition has great importance in the treatment of connective tissue dysplasia. The purpose of the diet is to stimulate the production of your own collagen and replenish the body’s need for vitamins and minerals. Essentially, this meets the principles healthy eating. The diet should include:

Proteins – meat and fish;
Carbohydrates – cereals, bread, pasta;
Vitamins – fruits, vegetables, herbs;
Minerals – eggs, dairy products.

Medicines

Drug therapy is aimed at eliminating the symptoms of the disease and stimulating the synthesis of normal collagen. Magnesium deficiency is known to reduce collagen production in children. Therefore, children with connective tissue dysplasia must be prescribed magnesium and calcium preparations - Magnerot, Kalcemin.

To replenish components cartilage tissue preparations containing glucosamine and chondroitin are indicated. These include Arthra, Teraflex, Cartiflex.

Stimulation of your own collagen also helps ascorbic acid, vitamins A and E.

Exercise therapy

Gymnastics is a mandatory step in the treatment of dysplasia in children. Intense physical activity should be limited as the child has increased risk development of fractures and dislocations. Well therapeutic exercises compiled by a specialist; it is adjusted as the child grows and tissues are restored.

Massage

To restore tissue elasticity and strengthen the muscular-ligamentous apparatus, regular massage of the limbs is performed. Used as usual classic massage, as well as various non-traditional techniques. It is important that massage is daily.

Physiotherapy

Physiotherapy procedures are carried out taking into account the child’s age:

Electrophoresis;
Applications of paraffin and ozokerite;
Magnetotherapy;
Diadynamic currents.

The greatest effect is observed during a course of physiotherapy.

Consequences

In case of untimely and inadequate treatment Irreversible damage may occur in the limbs. Joint dysplasia leads to the development of contractures, severe arthritis and arthrosis. In this case, treatment can only be surgical.

Connective tissue dysplasia in children is a complex and poorly understood disease. It requires as much as possible early diagnosis And complex treatment.

The human body consists of connective tissue, which performs a protective, trophic and supporting function. If there is a violation of its formation during the embryonic development of the fetus, then the child is born with connective tissue dysplasia. The diagnosis sounds scary for parents. But is it?

What's happened?

Connective tissue is produced from mesenchymal cells involved in the morphogenesis of any tissue during intrauterine development. Most of It is fibrous in the human body. That is, it consists of elastin protein and collagen fibers, which give it strength, elasticity and shape. Articular cartilage, fat, blood, iris, bones - all this is connective tissue that helps human organs and systems function properly.

Connective tissue dysplasia is a defect in the basic substance and fibrous structures of tissue, causing a disorder of homeostasis at all levels of the body's vital functions. A peculiar mutation of the genes responsible for the synthesis of fibers leads to the inability of connective tissue to withstand full mechanical load.

Deviations in tissue development can be of two types:

insertion (fabric fibers are too long and stretchy);
deletion (fibers are very short, with increased elasticity).

Scientists believe that the deletion is not dangerous to human life. Significant deviations in the functioning of organs and systems during this state not visible. Insertion entails a number of pathologies, which doctors collectively call “connective tissue dysplasia syndrome.” The disease often manifests itself as changes in organs (especially the heart) and the musculoskeletal system. Dysplasia of the connective tissue of the heart is dangerous because it does not make itself felt immediately, causing persistent disturbances in the functioning of the myocardium. Changes in bones, cartilage and tendons are visible almost immediately after the birth of the baby.

The disease is divided into two groups: differentiated and undifferentiated connective tissue dysplasia. In the first case, specialists manage to find a gene defect leading to the formation clinical symptoms. But with UCTD, it is impossible to establish the cause of disturbances in the genome. There are no data on such diseases in the ICD 10 classifier.

Reasons for the development of disorders

Scientists believe that the main cause of connective tissue dysplasia in children is gene mutation during embryogenesis. Most often, the genes responsible for the production of fibrillar protein, enzymes, and carbohydrate-protein complexes are affected. The following factors can provoke a “breakdown”:

unhealthy diet (high content of dyes in food, consumption of fast foods);
toxic effects of drugs and carcinogens;
occupational hazards;
viral infections;
bad ecology.

Congenital is the consequences of a burdened heredity of parents. If pathology is registered in both partners, then the risk of gene “breakage” increases to 80%.

Syndrome of connective tissue dysplasia of the heart is formed for the same reasons, but appears more often in adolescence. It's connected with hormonal changes the body when the level of testosterone and progesterone in the blood increases. Sometimes this disorder is caused by illness thyroid gland or deficiency of magnesium salts.

The causes of undifferentiated connective tissue dysplasia are as follows:

hereditary predisposition;
high levels of hormones at 32-40 weeks of pregnancy;
exposure to radiation or other exposures;
the presence of STIs during pregnancy, especially viral ones.

In most cases, there is a multifactorial formation of the disease.

Diagnostics

Diagnosis of connective tissue dysplasia is difficult a large number of clinical symptoms that do not accurately and quickly identify pathology. Comprehensive examination patients includes:

laboratory blood tests (BAC, CBC, tumor markers);
urine analysis (glycosaminoglycans and hydroxyproline);
assessment of joint mobility according to the Beighton scale;
"wrist test";
x-ray of organs and tissues;
FGDS;
biopsy with histological examination of the material.

If there is a suspicion of the presence of connective tissue dysplasia syndrome of the heart, then electrophysiological examination methods are performed - EEG and ECG.

Severe connective tissue dysplasia in children can sometimes be noticed with the naked eye without any examination, but it is necessary to contact a specialist. Only a doctor makes a diagnosis and prescribes individual treatment taking into account the patient's health characteristics.

Symptoms

In a pathological condition important role in the formation clinical signs the localization of the disorder plays a role. Doctors note the following general symptoms diseases:

sleep problems;
fast fatiguability;
heart pain;
cephalgia;
dizziness or fainting.

From the musculoskeletal system, flat feet, elongation of the limbs, scoliosis or chest deformation, and joint hypermobility properties are recorded. Patients may bend their fingers 90 degrees or twist their arms behind their back.

With cardiac dysplasia, constitutional signs of organ underdevelopment are observed: a “drip” or “hanging” heart, a turn around the longitudinal and sagittal axis. Ultrasound examination of the heart reveals problems with chords, valves, and partitions between the ventricles. Diagnosed following features structure of the heart and its structural parts:

prolapse of the mitral valve leaflets;
abnormal number of leaflets in the valves;
expansion of the proximal aorta and pulmonary trunk;
presence of aneurysms;
functional disorders of the conduction system.

The syndrome of pathology of the organs of vision includes the development ophthalmological diseases. Astigmatism, myopia, retinal detachment or angiopathy, blue sclera - all this can be a sign of improper formation of connective tissue. Patients may complain of constant attacks of spots before the eyes or causeless pain and stinging.

Hereditary connective tissue dysplasia provokes the occurrence of early varicose veins limbs. The vessels in patients become fragile and permeable, which increases the risk of formation internal bleeding. Nosebleeds occur very often. The epidermal layer of the skin is thinned and greatly altered: spider veins, hemangiomas or teleectasia appear, and excessive elasticity is determined.

The disease is diverse in its manifestations, so doctors also identify other syndromes pathological condition:

bronchopulmonary;
vertebrogenic;
visceral;
cosmetic and others.

Dysplasia can provoke disorders mental sphere, for example, hypochondria, neurosis or depression. Patients underestimate own capabilities, emotionally unstable, anxious, vulnerable. They experience attacks of self-flagellation, suicidal thoughts, and decreased interest in life.

Treatment

The manifestations of the disease are so individual that there is no universal treatment regimen. The goals of treatment are as follows: increase the level of collagen formation, eliminate life-threatening symptoms of the disease, normalize mental condition patient.

Conservative treatment is carried out in courses lasting from 3 to 8 weeks. Depending on the severity of the disease and the presence accompanying pathologies Courses are scheduled 1-3 times a year. The following drugs are used to stimulate collagen production:

Ascorbic acid;
Copper sulfate 1%;
synthetic vitamins group B.

Magnesium preparations for connective tissue dysplasia are the basis of therapy. Thanks to this element, the structure of transport RNA is stabilized, the overall rate of protein synthesis increases, oxygen is preserved in cells, and the excitability of neurons decreases.

In order for glycosaminoglycans to decompose, doctors recommend taking a course of Rumalon, Chondroxide or Chondrotin sulfate. To stabilize mineral metabolism, Alfacalcidol is used, to increase the level of amino acids in the blood - Potassium orotate, to establish bioenergy metabolism - Mildranate or Riboxin. All of the above medicines You should drink only as prescribed by a doctor under the monitoring of vital blood parameters.

Physiotherapy for dysplasia

Courses of physiotherapeutic procedures are prescribed by a physiotherapist, taking into account all the features of the pathological condition. In case of severe disorders of the musculoskeletal system, laser, magnetic, and inductotherapy are recommended, drug electrophoresis with Dimexide. To increase vascular tone, pine, hydrogen sulfide, carbon dioxide and radon baths are used, as well as a sauna and cold and hot shower. In case of vegetative-vascular syndrome, it is advisable to prescribe a 1% solution of caffeine sodium benzoate, mezatone or ephedrine using the collar method or Shcherbak’s method.

Therapeutic exercise for connective tissue dysplasia

Regular physical exercise or a complex of exercise therapy is indicated for all patients with dysplasia. Exercises are performed daily for 20-40 minutes. We recommend loads in a non-contact static-dynamic mode, which are performed in the “lying on your back” position. To activate the cardiovascular system, it is useful to engage in aerobic training: jogging, race walking, skiing, breathing exercises, Biking. You can use exercise bikes at home.

Patients should not perform spinal traction, hanging, lifting barbells and weights, or isometric exercises. It is also necessary to abandon all types of contact sports, weightlifting, and professional dancing.

Do I need to follow a diet for connective tissue dysplasia?

Most patients with connective tissue dysplasia are diagnosed with gastrointestinal tract. The more common ones include gastritis and stomach ulcers. Because of this, all patients are prescribed a consultation with a gastroenterologist to identify disturbances in the gastrointestinal tract and prescribe appropriate treatment.

The diet for patients with dysplasia contains following products power supply:

B vitamins - B1, B2, B3, B6 (oats, peas, kidneys, liver);
vitamin C ( Bell pepper, citrus fruits, black currants, porcini mushrooms);
containing chondroitin sulfates (fish and meat aspic, jellied meat, meat broth);
enriched with magnesium (bananas, seaweed, lentils, beans, beets, carrots);
polyunsaturated fatty acid(eggs, salmon, mackerel, flax seeds).

Of great importance in diet therapy is maintaining the optimal ratio between calcium and phosphorus, as well as calcium and magnesium in the diet.

Scientists have long proven that there is an undeniable relationship between connective tissue dysplasia and pregnancy. Women planning to replenish their family need to remember that the future health of the child is laid in the process of embryogenesis. That is why during this period you should be as careful as possible about yourself and your well-being.