Genetics of Vitamin-D-Resistant Rickets
Vitamin-D-resistant rickets (VDRR) is a term used to describe several different genetic disorders of phosphate and vitamin D metabolism that are refractory to the treatment regimen used for vitamin-D-deficiency rickets. Thirty years ago it was felt that all cases of VDRR were due to a single X-linked genetic disorder [1, 2]. Because hypophosphatemia was a prominent feature, the disease was called either X-linked hypophosphatemia (XLH) or familial hypophosphatemia (McKusick catalogue, MIM 30780). While XLH continues to account for the majority of VDRR cases, since 1960 there have been numerous reports of non-X-linked VDRR, including both autosomal dominant  and autosomal recessive [4, 5] forms. In addition, two human X-linked genes that may be implicated in VDRR have been described . These findings indicate that the genetic regulation of renal phosphate transport is more complicated than was thought previously [7, 8]. The purpose of this chapter is to review the mode of inheritance of various forms of VDRR. The emphasis will be placed on XLH, which is the best-characterized condition of this group.
KeywordsRecombination Calcitonin Mandel Retinitis Rickets
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