Familial hypophosphatemia rickets in children

Familial hypophosphatemic rickets, also known as hypophosphatemic anti-vitamin D rickets, are mainly due to mutations in the PHEX gene located on the X chromosome, resulting in reduced renal tubular reabsorption of phosphorus. Intestinal absorption of calcium and phosphorus is poor, blood phosphorus is reduced, generally between 0.65-0.97 / mmol / L (2-3mg / dl), calcium and phosphorus products are mostly below 30, bone is not easy to calcify. The genetic method is sex-linked dominant inheritance, which has no response to normal physiological doses of vitamin D, so it is also called anti-vitamin D rickets and sex-linked hypophosphatemia.

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