Genetic diseases

Brittle bones

Osteogenesis imperfecta

osteogenesis imperfecta photo Osteogenesis imperfecta - congenital bone disease, as well as individual connective tissue structures.Another name osteogenesis imperfecta - brittle bone disease.The disease is inherited, that is,It is genetically determined.

Osteogenesis imperfecta occurs in both men and women, the incidence of disease - 1 newborn to 12 000-15 000 children.For the first time this pathology has been mentioned in the XVII century.When osteogenesis imperfecta characterized by violation of the growth process, skin, muscle, blood vessels, teeth, tendons and hearing.

Despite the difficulties faced by people with osteogenesis imperfecta, most patients lead a full life.Currently, treatment of osteogenesis imperfecta increasingly becomes publicly available.However, to completely cure patients with this disease is that it is impossible.

Osteogenesis imperfecta causes

Osteogenesis imperfecta is a heterogeneous hereditary disease that affects the connective tissue.Expressed disease osteope

nia and some other clinical signs of osteogenesis.

main cause of this disease is a hereditary gene mutations of collagen.Rare is the occurrence of spontaneous mutations in the genes of the protein.The consequence of gene mutations becomes a violation of the synthesis of collagen, hence there pathology in the formation of bone and cartilage tissue.

Lack of synthesized collagen (non-mutated) is also one of the causes of osteogenesis imperfecta.In this case, the disease occurs in a mild form.Osteogenesis imperfecta this nature is reflected in the individual limb fractures after puberty fractures usually decreases.

Modern medicine distinguishes several types of osteogenesis imperfecta in view of radiographic, clinical, collagen Proteinogenic changes.

Osteogenesis imperfecta types:

Type I - a form of mild, dominant pattern of inheritance.Osteogenesis imperfecta, characterized by brittle bones, the presence of blue sclera.

Type II - perinatal-lethal.

Type III - skeletal deformation is progressive in nature.

Type IV - the dominant mode of inheritance, skeletal deformities expressed are not too sharply, normal sclera.

Many believe that osteogenesis imperfecta develops in the qualitative and quantitative disorders of type I collagen synthesis.Osteogenesis imperfecta type I is characterized by reduced levels of normal collagen synthesis.Type II, like Type IV osteogenesis imperfecta is due to a decrease in the total amount of collagen because of the reduced stability, although the process of collagen synthesis takes place without any disturbances.

Osteogenesis imperfecta symptoms

Each type of osteogenesis imperfecta has its own characteristic symptoms.

So, I kind of osteogenesis imperfecta in children manifest osteoporosis and frequent bone fractures.After the age of 10 fracture rate decreases, but increases again after 40 years.There have blue sclera and the early appearance of senile rim.The patients (about 50%) with this type of osteoporosis imperfect short, dentin, some preserved normal in some patients dentine Opal.At I type occur in some cases, changes of the aorta, mitral there (in 20% of cases there is mitral valve prolapse), nosebleeds.

for type II osteogenesis imperfecta is characterized by the death of the fetus before birth or early neonatal death.Fractures of multiple and frequent, easily occur.There are 3 groups:

Group A head injury, the limbs of the fetus observed during pregnancy because of the fragility of the connective tissue formations.Neurocranium increased the chest, on the contrary, reduced limbs short and Curved.There are severe cases of calcification of the aortic wall and endocardium.These children are born very small increase (about 25-30 cm).

There have premature births, with 20% of premature births - stillbirth.Some sick children die in the first days, some survive to the 4th week.Pathological changes can be detected before the birth of the child with the help of X-ray examination: thighs wide, has wavy edges, the edges of a rosary, chest short.In carrying out medical and genetic counseling in probands mentions the possibility of a molecular defect, combined with heterozygous mutations localized in the collagen gene.Inheritance is autosomal dominant.

Group B. Phenotypically similar to group A. However, the violations in the respiratory system are not as pronounced, children with osteogenesis imperfecta live for several years.Marked shortening of the long bones and the changes in the structure of the edges, but they are broken - a rare phenomenon.Presumably autosomal recessive inheritance.

Group B. Such cases are rare osteogenesis imperfecta.Characterized stillbirth or death in the first month.Patients observed a small increase, the fineness of the tubular bones (especially the diaphysis), skull bone without ossification.Presumably an autosomal recessive mode of inheritance.

Patients with type III osteogenesis imperfecta rare.During labor, sometimes fractures occur, the body of newborn shortened, while the mass may be within normal limits.Typical O-shaped deformation of the free limb, kyphoscoliosis.The cause of death of about half of the patients are various changes in the skeleton and circulatory system.Pronounced osteoporosis, bone growth in length broken with their ossification.The growth areas of bone calcification occurs uneven, which leads to spot (so-called "grain corn").Heredity is not exactly known.

IV type of osteogenesis imperfecta in children most often seen as a violation of the skeleton.In this type there is a great variability of osteopenia, the number of fractures, age-blue sclera.Typically, with age, the number of bone fractures is reduced, formed calluses, after 30 years in some patients this type of osteogenesis imperfecta hearing impaired.As dentin patients divided into 2 groups: some have observed dramatic changes in the dentin (teeth Opal), others - no change in the dentin.

Osteogenesis imperfecta treatment

diagnosis of osteogenesis imperfecta is based primarily on the clinical picture of the disease.For an accurate diagnosis is necessary to consult a specialist (endocrinologist, podiatrist or geneticist) and the appointment of laboratory studies to rule out other diseases.

The laboratory methods include: molecular analysis of collagen and biochemical analysis, the study of biopsy material of the skin.Instrumental methods of study include: X-ray (definition of osteopenia, various fractures, curvature of bones, fractures of the spine, intercalary bones in the skull), a biopsy of bone densitometry.

main goal of treatment of osteogenesis imperfecta - reducing the number of fractures in a patient, increase bone mineralization to reduce their brittleness, an increase in bone mass.An important point is the adaptation of the treatment of the child and his parents to the changed because of illness lifestyle.This will avoid future fractures.

whole course of treatment consists of:

- drug therapy.To combat osteogenesis imperfecta applied drugs: bisphosphonates, growth hormone, vitamin D3, calcium gluconate, magnesium salts and potassium salts, ergocalciferol, chelators, glycerophosphate.

- surgery.It is necessary to eliminate the fracture, strong bones, correct changes due to deformation, prosthetics.Sometimes surgery is complete in one operation: because of bone growth previously inserted pins require replacement.

used in the treatment of fractures of the flexible titanium rods, have anti-allergic properties.These rods are good fix a fracture, so the need for additional immobilization area of ​​the body disappears.Typical applications of plaster casts is difficult to care for, causes new fractures.It is also possible to use different grafts, bone grafting, and other metal structures.

Given the increased fragility of bones in a patient, in some cases, orthopedic osteoclasis make changes to correct the deformation of bone, and then the limb is fixed with plaster cast.Also suitable for the immobilization of the body stretching.

addition to the basic treatment of osteogenesis imperfecta also apply: physical therapy, physical therapy, osteosynthesis.Held rehabilitation and psychological support, both patients and family members.

full course of treatment does not fully cope with the severe disease like osteogenesis imperfecta, so all of the above methods allow only partially eliminate the symptoms and relieve the patient lifestyle without affecting the underlying cause of the disease.

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