Hypocalcemic and hypophosphatemic rickets

摘要

Rickets refers to deficient mineralization of the growth plate and is usually associated with abnormal serum calcium and/or phosphate. There are several subtypes of rickets, including hypophosphatemic rickets (vitamin-D-resistant rickets secondary to renal phosphate wasting), vitamin D-dependent rickets (defects of vitamin D metabolism), and nutritional rickets (caused by dietary deficiency of vitamin D, and/or calcium, and/or phosphate). Most rickets manifest as bone deformities, bone pain, and impaired growth rate. The diagnosis of rickets is established on the basis of medical history, physical examination, biochemical tests, and radiographs. It is crucial to determine the cause of rickets, including the molecular characterization in the case of vitamin-D-resistant rickets, and to initiate appropriate therapy promptly. In this review, we describe the different causes and therapies of genetic and nutritional rickets, supported by recent progress in genetics and in the development of novel molecules such as anti-FGF23 antibodies.