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

Abstract

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