hereditary hypophosphatemic rickets with hypercalciuria

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 elevated levels of serum 1,25-dihydroxyvitamin D, increased intestinal absorption of calcium and phosphate, and hypercalciuria.

Medical dictionary. 2011.

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  • 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… …   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

  • HHRH — hereditary hypophosphatemic rickets with hypercalciuria; hypothalamic hypophysiotropic releasing hormone …   Medical dictionary

  • HHRH — • hereditary hypophosphatemic rickets with hypercalciuria; • hypothalamic hypophysiotropic releasing hormone …   Dictionary of medical acronyms & abbreviations

  • SLC34A3 — Solute carrier family 34 (sodium phosphate), member 3, also known as SLC34A3, is a human gene.cite web | title = Entrez Gene: SLC34A3 solute carrier family 34 (sodium phosphate), member 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene… …   Wikipedia

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