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Albers-Schonberg Disease

Albers-Schonberg Disease Definition

The Albers-Schonberg disease is one of the most common types of osteopetrosis. It has been found that it is caused by the mutation in the CICN7 chloride channel gene. Those who have Albers-Schonberg disease, have bone cells, osteoclats, not functioning normally. These osteoclats are responsible for the breaking down of old bone tissues so that new ones will grow. In case of the disease, the osteoclats do not break the old bone tissues which then results in overgrow of the bones in the body. These overgrown then become very brittle and break easily. In the United States, it is estimated that around 1,250 persons have osteopetrosis. There are different forms of osteopetrosis and the most severe type is very rare that in the United States, there are only about 8 to 40 cases reported each year. The malignant infantile osteopetrosis is a severe form of the disease. It affects the child even when she is still in the womb. When the baby is delivered, the bones of the shoulder usually break. The baby with malignant infantile osteopetrosis has low calcium, has pressure on the optic nerve in the brain and experiences frequent bone fractures. About 75% of those affected with this disease will develop anemia and thrombocytopenia. If not treated, the child is not expected to live beyond the age of 10. Children have the disease when the parents have the abnormal genes even though they may not have the symptoms. The transient infantile osteopetrosis is the same as the infantile osteopetrosis except that in this case the patient heals on her own without treatment. The adult benign osteopetrosis is what is originally called the Albers-Schonberg disease. The disease is named after the man who first recorded or described the disease. The disease is generally mild and is more common among those in between the age of 20 and 40. One of the most common manifestations of the disease is frequent bone fractures and difficulty healing them. In some cases bone infections, degenerative arthritis, headache and pain may also be experience by those with the disease. The disease may be inherited from the parent with the defective gene and children of parents with the Albers-Schonberg disease have about 50% chance of having the same defective gene. The intermediate osteopetrosis is more common among children below the age of 10. The symptoms is almost the same as the malignant infantile osteopetrosis although less severe. It is believed that it is inherited the same way as the malignant infantile osteopetrosis.

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