Van Buchem disease

Van Buchem's disease is a very rare autosomal recessive disease. About 30 cases are reported worldwide, of which about half are in Dutch families. Patients suffer from bone hyperostosis. The disease mainly affects the bones of the skull, mandible, ribs, clavicle and diaphysis of long bones. The discovery of a mutation for the SOST gene has led to the development of antibodies against sclerostin, which are considered to be the future treatment for osteoporosis.

Odkazy

 * Osteoporosis