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Marble diagnosis of the disease in children and adults and its treatment

Osteopetrosis is a bone disease better known as marble bone disease. Osteopetrosis is a rare phenomenon. Causes of this disease are not studied properly. The amount of research on it also is not enough today. But to recognize and stop the disease, based on existing data, really.

the Problem of osteopetrosis from an early age

causes of development

Osteopetrosis develops from an early age, it is due to a genetic mutation. It is a congenital disorder. Parents may not suffer from this disease, but to pass on their gene to be inherited, and the child will get sick from an early age. Genes responsible for protein synthesis and ensuring the functioning of osteoclasts, mutate in the disease process. These data were obtained by surveys of people who are sick marble the disease. It was found that genes that have undergone mutations, do not produce a protein at all or in insufficient quantities. Pathology leads to the accumulation of calcium hydroxyapatite. As a result of the mineral component of bone is increased, and the organic and the medullary part is reduced.

the Main manifestations and symptoms

due to excessive seal bones significantly lose elasticity and begin to break down often. For patients marble a disease characterized by increased bone fragility and pathological fractures. These fractures differ from ordinary fractures of healthy bones. Usually, the fractures in the marble of the disease occur in abnormal areas of the skeleton. Unnatural is the ratio of mechanical stress on bone and the trauma. There are cases of fracture of the femur, although in healthy people they are one of the most durable and resistant to injury.

a blood test for placing accurate analysis

In the process of osteopetrosis bone tissue is constantly growing, so the gaps between the small bones overgrown. This unnatural phenomenon provokes violations in the skeleton and also affects the increase frangibility.

The First symptoms, indicating the presence of an adult or in children marble of the disease manifest themselves differently. Already in early childhood to children who have some deviations in physical development. Externally, it can be noted paleness, and lethargy. Internal organs (liver, spleen) and lymph nodes increase.

There is an infringement of normal development of the skeleton. This entails a number of deviations in the form of deformation:

  • the spine
  • chest;
  • skull.

The unnatural Process of growth of the skeleton provokes some other phenomenon. Among them, paralysis and even blindness. This is because the nerve trunks are pressed against a bone tissue.

Stunted growth, as a cause of osteopetrosis

In the early development of osteopetrosis the child may complain of pain in the extremities, quickly tired when walking. Noticeable external change is the change of the facial and cerebral skull, stunted growth (low compared with peers). The femur is also deformed, causing the foot can purchase a rounded inside shape. In the youngest children, the teeth erupt with a delay. Before possible complete loss of vision should pay attention to his fall. Blurred vision is one of the symptoms of the disease marble. Amid such physical deviations appear and deficiencies in mental development.

All of the above symptoms are outwardly obvious. But if they are missing, this does not mean that the development of osteopetrosis impossible. Possible the second form is hidden, which is developing without any visible signs. The disease affects people of both sexes and all ages. To identify osteopetrosis in this situation can be completely random. For example, during a medical examination on x-ray. If you suspect the disease marble are made of laboratory tests and other thorough studies of the patient.

the Hereditary factor of the disease

Diagnosis disease marble

The Most informative tool in determining the presence of marble disease is an x-ray.

After all, when the lumen of the opaque would be the skull, spine and bones of extremities. This means that the bone tissue is substantially sealed. Marble this disease named for two reasons:

  • when you fracture a bone structure is so uniform and smooth, like polished marble
  • transverse enlightenment found at the ends of long bones, reminiscent in appearance to the marble.

To Confirm the diagnosis and blood test. Indicator – increased level of leukocytes and the appearance of normoblasta.


There are No medications or treatment programs that can completely get rid of osteopetrosis. But early detection of the disease in children, rightphysical activity and nutrition allow you to monitor the progress of the disease.

The treatment Process includes the systematic massage, physiotherapy, gymnastics and swimming. If necessary, prescribe orthopedic correction.

The diet of the patient should be rich in natural products, vegetables and fruit should be predominant in the diet.

Radical invasive treatment method marble disease is a bone marrow transplant. This treatment is considered quite effective.

Additional sources:

Diagnosis of rheumatic diseases. Reutsky, I. A., Marinin V. F. A. Glotova, V. 2011;

– Rheumatology. Clinical practice guidelines. Nasonov E. L. 2008;