hypophosphatemic bone disease

hypophosphatemic bone disease
an autosomal dominant disorder clinically resembling a mild form of X-linked hypophosphatemia and similarly due to a defect in renal tubular function, but usually showing osteomalacia without radiographic evidence of rickets and responding to calcitriol without supplemental phosphate in at least some cases.

Medical dictionary. 2011.

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  • Autosomal dominant hypophosphatemic rickets — (ADHR) is a rare hereditary disease in which excessive loss of phosphate in the urine leads to poorly formed bones (rickets), bone pain, and tooth abscesses. ADHR is caused by a mutation in the fibroblast growth factor 23 (FGF23). ADHR affects… …   Wikipedia

  • HBD — has been drinking; homozygous by descent; hydroxybutyric dehydrogenase; hypophosphatemic bone disease …   Medical dictionary

  • HBD — • has been drinking; • homozygous by descent; • hydroxybutyric dehydrogenase; • hypophosphatemic bone disease …   Dictionary of medical acronyms & abbreviations

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  • Maurice Pechet — 120px Residence Cambridge, Massachusetts Citizenship American …   Wikipedia

  • 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

  • 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

  • Growth hormone treatment — Growth hormone (GH) is a protein hormone secreted by the pituitary gland which stimulates growth and cell reproduction. In the past growth hormone was extracted from human pituitary glands. GH is now produced by recombinant DNA technology, and… …   Wikipedia

  • Genetic disorder — For a non technical introduction to the topic, see Introduction to genetics. Genetic disorder Classification and external resources MeSH D030342 A genetic disorder is an illness caused by abnormalities in genes or …   Wikipedia

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