Autosomal dominant hypophosphatemic rickets
| Autosomal dominant hypophosphatemic rickets | |
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| This condition is inherited in an autosomal dominant manner | |
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| Specialty | Pediatrics |
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
- ↑ Online Mendelian Inheritance in Man (OMIM): 193100
- ↑ "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.
- ↑ Chanchlani, Rahul; Nemer, Paul; Sinha, Rajiv; Nemer, Lena; Krishnappa, Vinod; Sochett, Etienne; Safadi, Fayez; Raina, Rupesh (July 2020). "An Overview of Rickets in Children". Kidney International Reports. 5 (7): 980–990. doi:10.1016/j.ekir.2020.03.025. ISSN 2468-0249.
Further reading
- "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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