Osteopetrosis: the follow-up of the disease in a patient who underwent hematopoietic stem cell transplantation at the age of 27 years

Osteopetrosis is a rare hereditary disease that develops as result of genetic mutations leading to impaired development and function osteoclasts. There are several forms osteopetrosis differ in the type inheritance (autosomal recessive, autosomal dominant intermediate) severity symptoms. The main clinical manifestations frequent pathological fractures, anemia, thrombocytopenia, infectious complications, compression cranial nerves function. With timely diagnosis successful hematopoietic stem cell transplantation (HSCT), prognosis favorable. In vast majority cases, performed first 10 months life. literature describes only 12 patients with who underwent HSCT over age 5 years. article presents case due mutation CA2 gene (Chr8: 86389420C> G, p.Y193X) 30-year-old patient THSC at 27.