| Autosomal dominant hypophosphatemic rickets | |
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| 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. [1] Occasionally, hypophosphatemia may improve over time as urine losses of phosphate partially correct. [1]
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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. [2] 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. [3] 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. [4]
