vitamin D-resistant rickets


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Related to vitamin D-resistant rickets: XLH, familial hypophosphatemia

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.

vitamin D-resistant rickets

a genetic disease clinically similar to rickets but resistant to treatment with large doses of vitamin D. It is caused by a congenital defect in renal tubular resorption of phosphate and usually occurs in men. See also 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.

rickets

a disease of young growing animals caused by a nutritional deficiency of phosphorus or vitamin D. There is a failure of calcification of osteoid and cartilage of the bones which become bowed and a persistence with enlargement of the epiphyses so that the joints appear swollen. The animals are lame and dentition is delayed. Radiological examination shows a wider and thicker growth plate.

adult rickets
osteomalacia; a rickets-like disease affecting adults.
fetal rickets
hypervitaminosis D rickets
deposition of large amounts of osteoid matrix in the metaphyses with a delay in its mineralization occurs in feeding excessive amounts of vitamin D.
inherited rickets
affected piglets are normal at birth but develop rickets indistinguishable from classical rickets. There is a defect in calcium absorption.
renal rickets
see renal secondary hyperparathyroidism.
vitamin D-resistant rickets
a condition almost indistinguishable from ordinary rickets clinically but resistant to unusually large doses of vitamin D; it is often familial but may occur sporadically. In hypophosphatemic vitamin D-resistant rickets, hypophosphatemia is the main characteristic, while in hypocalcemic vitamin D-resistant rickets, the serum concentration of phosphate is within normal limits or nearly so, and the concentration of calcium is abnormally low.
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