osteopetrosikseen

Osteopetrosis, also known as marble bone disease or Albers-Schönberg disease, is a rare inherited disorder characterized by osteoclast dysfunction. Osteoclasts are specialized cells responsible for breaking down bone tissue. In osteopetrosis, these cells are deficient or defective, leading to an accumulation of dense, brittle bone. This impaired bone resorption results in bones that are thicker than normal but also more fragile and prone to fractures.

The disease can manifest in several forms, varying in severity. Infantile osteopetrosis is the most severe, often presenting within the first few months of life with life-threatening complications. Autosomal recessive osteopetrosis also presents in childhood, while the autosomal dominant form, typically less severe, may not be diagnosed until adulthood. Symptoms can include bone pain, fractures, vision and hearing problems due to nerve compression by thickened bone, anemia and thrombocytopenia from bone marrow crowding, and neurological issues such as hydrocephalus.

Diagnosis is usually made through characteristic X-ray findings showing increased bone density and the absence of normal bone marrow cavities. Genetic testing can confirm the diagnosis and identify the specific gene mutation. Treatment depends on the severity and type of osteopetrosis and may involve supportive care for fractures, medications to stimulate osteoclast activity in milder cases, or bone marrow transplantation for severe forms to provide functional osteoclasts. While significant progress has been made, osteopetrosis remains a challenging condition with ongoing research focused on gene therapy and improved treatment strategies.