What is osteopetrosis?

osteopetrosis is an extremely rare inherited disease that causes an increase in the density of the bone. Sometimes it is called "marble bone disease", in reference to the extreme solidification of the bones involved and is also known as Albers-Schonberg's disease. At present, osteopetrosis is not treatable, although there are ways to improve patients, and scientists hope to identify a rogue gene that causes a condition.

The two main cells regulate the growth and density of the bone in the body. Osteoblasts generate new bones while osteoclasts destroy the bone and reabsorb its minerals. Most people have the right balance of these cells that promote the growth of new healthy bones and the dissolution of the older bone. However, there are fewer osteoclasts in patients with osteopetrosis, which means that the body continues to grow new bones, but that the bone is not reabsorbed.

If you are familiar with your Greek roots, you know that osteo means "bones" and petras Tovy bones turn to stone. This is not entirely accurate, but it is quite close. Since the patient continues to grow new bones, the total bone density increases and it is not uncommon for patients to experience pain around their bones due to nerves that are extremely dense under pressure.

osteopetrosis is often easily identifiable on X -ray because the dense bones of the patient are clearly shown. Ironically, despite the fact that the bones are very dense, they are also very fragile. Many patients with osteopetrosis suffer from frequent and painful fractures, and when the condition occurs in adults, it is often the first sign. When older people arise osteopetrosis, it is known as benign osteopetrosis, although this name is a bit of an incorrect name, because the condition can still be very painful and potentially deadly.

When osteoptrosje diagnosed in infants or very young children, is known as mAligine osteopetrosis and prognosis are often poor, while some patients do not live over 10 years of age. The diagnoses that fall between the end of this spectrum are imaginatively called "medium osteopetrosis". In all cases, steps are taken to seize patients, and some doctors use bone marrow transplants as a therapeutic technique in the hope that bone marrow will generate more osteoclasts to help break the excess bone.