פרטי המחלה (MCTO) Multicentric carpotarsal osteolysis syndrome

Multicentric Carpotarsal Osteolysis is a rare skeletal dysplasia defined by destructive bone degeneration (osteolysis), particularly affecting the bones forming the wrists (carpals) and the bones in the feet (tarsals.) Most individuals with MCTO also develop chronic kidney failure. MCTO is caused by a mutation of the MAFB gene, which has a problem with the pathway that regulates osteoclast differentiation and activation. In a normal person the body understands the process of breaking down and remodeling bone cells continuously over the course of ones life. In MCTO case, the variant on the MAFB gene only knows destruction

פיזיותרפיה, הידרותרפיה, ריפוי בעיסוק, מעקב נפרולוגיה