Autosomal dominant hypophosphatemic rickets

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Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [1] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch. 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.

References

Online 'Mendelian Inheritance in Man' (OMIM) 193100

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Articles on Autosomal dominant hypophosphatemic rickets	Most recent articles on Autosomal dominant hypophosphatemic rickets • Most cited articles on Autosomal dominant hypophosphatemic rickets • Review articles on Autosomal dominant hypophosphatemic rickets • Articles on Autosomal dominant hypophosphatemic rickets in N Eng J Med, Lancet, BMJ
Media (Slides, Video, Images, MP3) on Autosomal dominant hypophosphatemic rickets	Powerpoint slides on Autosomal dominant hypophosphatemic rickets • Images of Autosomal dominant hypophosphatemic rickets • Photos of Autosomal dominant hypophosphatemic rickets • Podcasts & MP3s on Autosomal dominant hypophosphatemic rickets • Videos on Autosomal dominant hypophosphatemic rickets
Evidence Based Medicine Regarding Autosomal dominant hypophosphatemic rickets	Cochrane Collaboration on Autosomal dominant hypophosphatemic rickets • Bandolier on Autosomal dominant hypophosphatemic rickets • TRIP on Autosomal dominant hypophosphatemic rickets
Cost Effectiveness of Autosomal dominant hypophosphatemic rickets	Cost Effectiveness of Autosomal dominant hypophosphatemic rickets
Clinical Trials Involving Autosomal dominant hypophosphatemic rickets	Ongoing Trials on Autosomal dominant hypophosphatemic rickets at Clinical Trials.gov • Trial results on Autosomal dominant hypophosphatemic rickets • Clinical Trials on Autosomal dominant hypophosphatemic rickets at Google
Guidelines / Policies / Government Resources (FDA/CDC) Regarding Autosomal dominant hypophosphatemic rickets	US National Guidelines Clearinghouse on Autosomal dominant hypophosphatemic rickets • NICE Guidance on Autosomal dominant hypophosphatemic rickets • NHS PRODIGY Guidance • FDA on Autosomal dominant hypophosphatemic rickets • CDC on Autosomal dominant hypophosphatemic rickets
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Genetics, Pharmacogenomics, and Proteinomics of Autosomal dominant hypophosphatemic rickets	Genetics of Autosomal dominant hypophosphatemic rickets • Pharmacogenomics of Autosomal dominant hypophosphatemic rickets • Proteomics of Autosomal dominant hypophosphatemic rickets
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Commentary on Autosomal dominant hypophosphatemic rickets	Blogs on Autosomal dominant hypophosphatemic rickets
Patient Resources on Autosomal dominant hypophosphatemic rickets	Patient resources on Autosomal dominant hypophosphatemic rickets • Discussion groups on Autosomal dominant hypophosphatemic rickets • Patient Handouts on Autosomal dominant hypophosphatemic rickets • Directions to Hospitals Treating Autosomal dominant hypophosphatemic rickets • Risk calculators and risk factors for Autosomal dominant hypophosphatemic rickets
Healthcare Provider Resources on Autosomal dominant hypophosphatemic rickets	Symptoms of Autosomal dominant hypophosphatemic rickets • Causes & Risk Factors for Autosomal dominant hypophosphatemic rickets • Diagnostic studies for Autosomal dominant hypophosphatemic rickets • Treatment of Autosomal dominant hypophosphatemic rickets
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