Autosomal dominant hypophosphatemic rickets

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Autosomal dominant hypophosphatemic rickets
Classification and external resources
ICD-10 E83.3,E83.31
ICD-9 275.3, 268.0
OMIM 193100
DiseasesDB 33193
MedlinePlus 000344
eMedicine article/922305

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 men and women equally; symptoms may become apparent at any point from childhood through early adulthood. Blood tests reveal low levels of phosphate (hypophosphatemia) and inappropriately normal levels of vitamin D.[citation needed] Occasionally, hypophosphatemia may improve over time as urine losses of phosphate partially correct.[citation needed]

ADHR may be lumped in with X-linked hypophosphatemia under general terms such as hypophosphatemic rickets. Hypophospatemic rickets are associated with at least nine other genetic mutations.[1] Clinical management of hypophospatemic rickets may differ depending on the specific mutations associated with an individual case, but treatments are aimed at raising phosphate levels to promote normal bone formation.[2]

References[edit]

  1. ^ Online 'Mendelian Inheritance in Man' (OMIM) 193100
  2. ^ "Hypophosphatemic rickets". Genetic and Rare Diseases Information Center. National Institutes of Health. Archived from the original on 10 October 2012. Retrieved 10 October 2012. 

External links[edit]