Osteogenesis imperfecta - Causes, Symptoms , Treatment


1. reasons osteogenesis imperfecta

2. symptoms

3. Treatment of diseases

Osteogenesis imperfecta is a rare disease called skeletal skeleton man, expressed inincreased bone fragility.In many cases it is hereditary, but can also be purchased.

The disease manifests itself in different ways.It happens that children are born with fractures.Often there is no fracture in the newborn, but they are constantly taking place in the first years of life.If the disease is mild, brittle bones can make itself felt in the school age, and sometimes after puberty.

If the disease manifests after birth, it is believed that he inherited it from a parent.Then, when the newborn already has multiple fractures, carriers causing pathological changes in gene is likely to be both mother and father.

osteogenesis imperfecta in severe forms leads to a strong curvature of the spine, short stature, deafness.Severe disease can cause twisting, shortening and thickening of bones.The life expectancy of such pa

tients usually small.

reasons osteogenesis imperfecta

main cause of osteogenesis imperfecta is a gene mutation of the protein collagen, which is mainly hereditary.In rare cases, it can also arise spontaneously.As a result of changes in protein structure breaks down the process of synthesis.This leads to the formation of pathologies of cartilage and bone cells.

Another reason osteogenesis imperfecta - insufficient production of collagen, which is not mutated.In this case, the disease is often mild form.In this form occur only a few broken limbs, the number of which usually decreases after puberty.


osteogenesis imperfecta Symptoms often manifest themselves in the first years of life.Patients newborn's head is increased in size, a soft spot for a long time does not grow, and the bones of the skull for a long time remain very soft.The child can be twisted and shortened limbs.These children are able to get a fracture when swaddling or during quiet games.

Kids with increased skeletal fragility do not grow and move a little, react poorly or not at all respond to the sounds of voices and background noise due to muscle atrophy and deafness.Sick children lag behind in physical development, but their mental development at the same time in most cases remains normal.

The general symptoms of the disease can be described as follows:

  • frequent fractures that occur at low loads on the bone system;
  • excessively mobile joints;
  • color blue sclera;
  • Poorly developed muscles;
  • deformation of bones;
  • Hair loss;
  • destruction and tooth loss.

patients observed inguinal and umbilical hernia and deafness.They often suffer from abnormalities of the aortic and mitral valves of the heart, nephrolithiasis, diseases of the aorta, lungs, etc.Quite often, when incomplete osteogenesis chest swells and becomes a barrel.

In general, the symptoms of the disease depends on its shape.In mild form significant deformation of bones, usually does not happen.Observed only scoliosis, increased fragility of bones and abnormal joint mobility.Can happen compression fractures of the spine.People with this form of osteogenesis imperfecta with a certain subject precautions can live for a long time.

When collagen is produced in insufficient quantities, and thus has a modified structure, in patients other than frequent fractures and severe bone deformities, marked with breathing problems due to underdeveloped lungs.They usually die in the first year of life.

Treatment of diseases

increased fragility of bones is a very serious disease that modern medicine is fully cured can not yet.Therefore, the goal of treatment of osteogenesis imperfecta is to reduce the risk of fractures by increasing bone mineralization and the most probable way of restoring normal life of the patient.

Drug treatment of osteogenesis imperfecta is to assign the patient calcium supplements, bisphosphonates, vitamin D, hormones, ergocalciferol, glycerophosphate, complexing agents, potassium and magnesium salts.

in the treatment of osteogenesis imperfecta used exercise therapy, physiotherapy, osteosynthesis.In some cases, surgery is recommended, consisting in fixing the immobility of joints using metal structures, different grafts and bone grafting.


This article is available exclusively in the educational purposes and is not research material or professional medical advice.

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