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1 References  





2 Further reading  





3 External links  














Autosomal dominant hypophosphatemic rickets







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From Wikipedia, the free encyclopedia
 


X-linked dominant hypophosphatemic rickets
This condition is inherited in an autosomal dominant manner
SpecialtyEndocrinology Edit this on Wikidata

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. Hypophosphatemic rickets are associated with at least nine other genetic mutations.[1] Clinical management of hypophosphatemic 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] In a 2019 randomised, clinical trial the rickets in children with X-linked hypophosphataemia treated with a human monoclonal antibody against FGF23 called burosumab improved significantly compared to conventional therapy.[3]

References[edit]

  • ^ "Hypophosphatemic rickets". Genetic and Rare Diseases Information Center. National Institutes of Health. Archived from the original on 12 June 2012. Retrieved 10 October 2012.
  • ^ Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, et al. (June 2019). "Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial". Lancet. 393 (10189): 2416–2427. doi:10.1016/S0140-6736(19)30654-3. PMC 7179969. PMID 31104833.
  • Further reading[edit]

    External links[edit]


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  • Retrieved from "https://en.wikipedia.org/w/index.php?title=Autosomal_dominant_hypophosphatemic_rickets&oldid=1182192755"

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    This page was last edited on 27 October 2023, at 18:33 (UTC).

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