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Autosomal dominant hypophosphatemic rickets



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. Treatment consists of increasing phosphate intake and high doses of vitamin D. Occasionally, hypophosphatemia may improve over time as urine losses of phosphate partially correct.

Additional recommended knowledge

References

Online 'Mendelian Inheritance in Man' (OMIM) 193100

 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Autosomal_dominant_hypophosphatemic_rickets". A list of authors is available in Wikipedia.
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