Autosomal dominant hypophosphatemic rickets
| Autosomal dominant hypophosphatemic rickets | |
|---|---|
| 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. 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
- ^ Online Mendelian Inheritance in Man (OMIM): 193100
- ^ "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
- "Hereditary hypophosphatemic rickets". Genetics Home Reference. September 2010. Archived from the original on 10 October 2012. Retrieved 10 October 2012.
{{cite web}}: Unknown parameter|deadurl=ignored (|url-status=suggested) (help) - "Hypophosphatemic Rickets". The Merck Manual Home Health Handbook. Merck Sharp & Dohme Corp. December 2006. Archived from the original on 10 October 2012. Retrieved 10 October 2012.
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