vitamin D-resistant rickets

vi·ta·min D-·re·sis·tant rick·ets

a group of metabolic disorders characterized by renal tubular defects in phosphate transport and bone abnormalities resulting in hypophosphatemic rickets or osteomalacia; hypocalcemia and tetany are not features. There is an autosomal dominant form [MIM*193100] and an X-linked dominant form [MIM*307800], the latter caused by mutation in the phosphate-regulating gene with homologies to endopeptidases (PHEX) on chromosome Xp. Both forms are not responsive to standard therapeutic doses of vitamin D but they may respond to very large doses of phosphate and/or vitamin D. There is also an autosomal recessive form [MIM*277440] caused by mutation in the vitamin D receptor gene (VDR) on 12q. Also sometimes called vitamin D-dependent rickets type II. Synonym(s): familial hypophosphatemic rickets

vit·a·min D-re·sis·tant rick·ets

(vīt'ă-min rĕ-zis'tănt rik'ĕts) A group of disorders characterized by hypophosphatemic osteomalacia; heritable renal tubular disorders and abnormalities in vitamin D metabolism occur in some patients.

vi·ta·min D-re·sis·tant rick·ets

(vītă-min rĕ-zistănt rikĕts) Metabolic disorder characterized by renal tubular defects in phosphate transport and bone abnormalities resulting in hypophosphatemic rickets or osteomalacia.

单词	vitamin d-resistant rickets
释义	DictionarySeerickets vitamin D-resistant rickets vi·ta·min D-·re·sis·tant rick·ets a group of metabolic disorders characterized by renal tubular defects in phosphate transport and bone abnormalities resulting in hypophosphatemic rickets or osteomalacia; hypocalcemia and tetany are not features. There is an autosomal dominant form [MIM193100] and an X-linked dominant form [MIM307800], the latter caused by mutation in the phosphate-regulating gene with homologies to endopeptidases (PHEX) on chromosome Xp. Both forms are not responsive to standard therapeutic doses of vitamin D but they may respond to very large doses of phosphate and/or vitamin D. There is also an autosomal recessive form [MIM277440] caused by mutation in the vitamin D receptor gene (VDR*) on 12q. Also sometimes called vitamin D-dependent rickets type II. Synonym(s): familial hypophosphatemic rickets vit·a·min D-re·sis·tant rick·ets (vīt'ă-min rĕ-zis'tănt rik'ĕts) A group of disorders characterized by hypophosphatemic osteomalacia; heritable renal tubular disorders and abnormalities in vitamin D metabolism occur in some patients. vi·ta·min D-re·sis·tant rick·ets (vītă-min rĕ-zistănt rikĕts) Metabolic disorder characterized by renal tubular defects in phosphate transport and bone abnormalities resulting in hypophosphatemic rickets or osteomalacia. AcronymsSeeVDRR
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