Medicine:Autosomal dominant hypophosphatemic rickets

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X-linked dominant hypophosphatemic rickets
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This condition is inherited in an autosomal dominant manner

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. Occasionally, hypophosphatemia may improve over time as urine losses of phosphate partially correct.

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

  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 12 June 2012. https://web.archive.org/web/20120612101237/http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6735. Retrieved 10 October 2012. 

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