Osteopetrosis is a complex disease of the bone tissue, in which its compaction is observed. The disease manifests itself from birth and proceeds quite hard. Bone tissue develops abnormally; it becomes very heavy. On the cut, you can see a characteristic marble pattern, so the disease has the same name.
There are two main types of osteopetrosis: malignant infantile and adult. A malignant infantile form of osteopetrosis manifests itself soon after birth and can significantly reduce life expectancy. Despite its name, it is not associated with cancer. The formal name for this type of marble disease is autosomal recessive osteopetrosis.
The adult form is milder and cannot be diagnosed before adolescence or adulthood. The formal name for this type of marble disease is autosomal dominant osteopetrosis.
In marble disease caused by osteoclast lesions, bone marrow transplantation (BMT) is used. It is necessary timely prevention and treatment of complications (anemia, deformation of the skeleton). For these purposes, therapy with corticosteroids, gamma-interferon, erythropoietin is used. In the development of complications in children, vitamin D and/or gamma-interferon may be used.