familial hypophosphatemic rickets

familial hypophosphatemic rickets
any of several inherited disorders of proximal renal tubular function causing phosphate loss, hypophosphatemia, and skeletal deformities, including rickets and osteomalacia. The group is genetically heterogeneous and clinically variable. See X-linked hypophosphatemia, autosomal dominant hypophosphatemic r., and hereditary hypophosphatemic r. with hypercalciuria.

Medical dictionary. 2011.

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  • hypophosphatemic rickets — any of a group of disorders characterized by rickets associated with hypophosphatemia, resulting from dietary phosphorus deficiency (antacid induced osteomalacia) or due to defects in renal tubular function that may be either hereditary (familial …   Medical dictionary

  • familial hypophosphatemic osteomalacia — osteomalacia occurring in familial hypophosphatemic rickets …   Medical dictionary

  • autosomal dominant hypophosphatemic rickets — (ADHR), autosomal dominant vitamin D–resistant rickets a form of familial hypophosphatemic rickets with autosomal dominant inheritance and caused by mutation in the FGF23 gene (locus: 12p13.3), which encodes a member of the fibroblast growth… …   Medical dictionary

  • hereditary hypophosphatemic rickets with hypercalciuria — a form of familial hypophosphatemic rickets caused by mutation in the SLC34A3 gene (locus: 9q34), which encodes a cotransporter important in maintenance of inorganic phosphate concentration at the kidney; hypophosphatemia is accompanied by… …   Medical dictionary

  • familial hypophosphatemia — familial hypophosphatemic rickets; the term is sometimes used specifically for X linked hypophosphatemia …   Medical dictionary

  • Rickets — A disease of infants and children that disturbs normal bone formation (ossification). Rickets is a failure to mineralize bone. This softens bone (producing osteomalacia) and permits marked bending and distortion of bones. Up through the first… …   Medical dictionary

  • vitamin D–resistant rickets — 1. X linked hypophosphatemia. 2. any of a group of disorders characterized by rickets but not responding to high doses of vitamin D; most are forms of familial hypophosphatemic rickets …   Medical dictionary

  • FHR — familial hypophosphatemic rickets; fetal heart rate …   Medical dictionary

  • FHR — • familial hypophosphatemic rickets; • fetal heart rate …   Dictionary of medical acronyms & abbreviations

  • X-linked hypophosphatemia — a form of familial hypophosphatemic rickets, with X linked dominant inheritance and caused by mutation at locus Xp22.2 p22.1; the bone disease is due to defects in the resorption of phosphate by the proximal renal tubule and in the regulation of… …   Medical dictionary

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