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Journal of Bone and Mineral Metabolism, 20(3), 170–173 (2002), DOI:10.1007/s007740200024
Introduction: McCune-Albright syndrome (MAS) is characterized by café-au-lait spots, polyostotic fibrous bone dysplasia, and multiple endocrine hyperfunction. Hypophosphatemic rickets has been reported as a rare complication of MAS. MAS is reported to be caused by an activating mutation of the Gs α protein. The reduction in guanosine triphosphatase (GTPase) activity caused by this mutation results in an increase in cyclic adenosine 3',5'-monophosphate (cAMP) levels in the endocrine organs, which, in turn, is linked to the activation of Gs α protein-associated hormone actions, including increased interleukin (IL)-6 synthesis in fibrous cells isolated from the affected bones …
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