Autosomal dominant hypophosphatemic rickets

Medical condition

Autosomal dominant hypophosphatemic rickets

This condition is inherited in an autosomal dominant manner
Specialty| Endocrinology

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

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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. Retrieved 10 October 2012.
3. ^ 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 31104833.2416-2427&rft.date=2019-06&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7179969#id-name=PMC&rft_id=info:pmid/31104833&rft_id=info:doi/10.1016/S0140-6736(19)30654-3&rft.aulast=Imel&rft.aufirst=EA&rft.au=Glorieux,+FH&rft.au=Whyte,+MP&rft.au=Munns,+CF&rft.au=Ward,+LM&rft.au=Nilsson,+O&rft.au=Simmons,+JH&rft.au=Padidela,+R&rft.au=Namba,+N&rft.au=Cheong,+HI&rft.au=Pitukcheewanont,+P&rft.au=Sochett,+E&rft.au=Högler,+W&rft.au=Muroya,+K&rft.au=Tanaka,+H&rft.au=Gottesman,+GS&rft.au=Biggin,+A&rft.au=Perwad,+F&rft.au=Mao,+M&rft.au=Chen,+CY&rft.au=Skrinar,+A&rft.au=San+Martin,+J&rft.au=Portale,+AA&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7179969&rfr_id=info:sid/en.wikipedia.org:Autosomal+dominant+hypophosphatemic+rickets" class="Z3988">

## Further reading

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* "Hereditary hypophosphatemic rickets". Genetics Home Reference. September 2010. Archived from the original on 17 September 2012. Retrieved 10 October 2012.
* "Hypophosphatemic Rickets". The Merck Manual Home Health Handbook. Merck Sharp & Dohme Corp. December 2006. Archived from the original on 13 October 2012. Retrieved 10 October 2012.

## External links

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Classification|

* ICD-10: E83.3, E83.31
* ICD-9-CM: 275.3, 268.0
* OMIM: 193100
* MeSH: C562791

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External resources|

* MedlinePlus: 000344
* eMedicine: article/922305
* Orphanet: 89937

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