Osteogenesis imperfecta - causes and signs of osteogenesis imperfecta

There are two forms of osteogenesis imperfecta:

• Early form (congenital), known as "Frolik disease", during which fractures occur already during intrauterine development, during childbirth or in the first days of life.
• Late form (Lobstein disease): fractures occur during the period when the child begins to walk.

Also, osteogenesis imperfecta is divided into types:

• Type 1: characterized by fractures after birth;
• Type 2: skeletal development disorders and physical development that does not correspond to the age;
• Type 3: characterized by fractures from birth to adolescence;
• Type 4: accompanied by minimal bone tissue disorders, but the development of premature osteoporosis;
• Type 5: characterized by a unique bone tissue structure (reticulate);
• Type 6: characterized by bone tissue called "fish scales";
• Type 7: accompanied by a mutation of cartilage, not bone tissue;
• Type 8: a type of osteogenesis that has a lethal outcome, accompanied by a strong change in protein.

According to the type of inheritance, osteogenesis imperfecta is classified as follows:

• autosomal dominant - inherited from one of the affected parents;
• autosomal recessive - inherited from parents who have a gene mutation, but do not have the disease itself.

Causes

Ostogenesis imperfecta is genetic in nature, and its main cause is a gene mutation, which leads to the formation of an insufficient amount of collagen. As a result, the bones become brittle, especially the tubular bones (humerus, femur, tibia and forearm).

Symptoms

All symptoms of osteogenesis imperfecta are associated with skeletal pathologies, namely:

• increased bone fragility, which leads to fractures during intrauterine development, during labor, in the first year of life;
• the bones of the skull are not hard enough;
• deformation of the chest;
• change in the shape of the bones;
• shortening of the bones;
• late eruption of teeth;
• crumbling, yellowish enamel of the teeth;

In addition, patients observed:

• flabby muscles that lag behind in development;
• weak joints;
• umbilical or inguinal hernias;
• decreased hearing and vision;
• retardation in physical development;
• short stature.

Ostogenesis imperfecta can cause pneumonia (as a result of chest deformation), complete hearing loss and tooth loss at an early age.

Diagnostics

If you notice any of the symptoms listed above, you should make an appointment with a pediatrician (for children) or a therapist (for adults). You may also need to consult an orthopedic traumatologist.

Diagnosis of osteogenesis imperfecta includes:

• analysis of the disease history and family history;
• X-ray of the entire skeleton;
• bone biopsy;
• molecular genetic analysis of collagen.

Treatment

Treatment of osteogenesis imperfecta consists of relieving symptoms and strengthening bone tissue. For this, a therapist, pediatrician or traumatologist-orthopedist prescribes multi-level drug treatment:

• antioxidants, vitamin D2, calcium and phosphorus salts, somatotropin are prescribed to enhance collagen production;
• then I stimulate bone tissue mineralization by prescribing drugs with parathyroid hormones and multivitamins;
• physiotherapy is prescribed: electrophoresis with calcium salt, therapeutic massages and physical education.

In severe cases, when severe bone deformation has occurred, they are corrected using osteotomy (bone dissection) or osteosynthesis (matching of bone parts). Operations are performed using an extraosseous or intraosseous fixator.

Prevention

The main preventive measure for osteogenesis imperfecta is medical genetic consultations during pregnancy if there are patients in the family.