New perspectives on the biology and treatment of X-linked hypophosphatemic rickets.
This article updates the practicing pediatrician's knowledge of the hypophophatemic disorders that may occur in children. The classic X-linked disorder is emphasized. Details of clinical manifestations, the wide spectrum of disease severity, and complications of the disorder in adults are reviewed. Recent research, new genetic findings, and speculations regarding pathophysiology are discussed. A strategy for approaching medical treatment of X-linked hypophosphatemic rickets is provided, together with complications of treatment and treatment after cessation of growth.
Carpenter
T O
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Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
D000328:Adult; D000818:Animals; D002117:Calcitriol / Q000627:therapeutic use; D002648:Child; D004195:Disease Models, Animal; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000628:therapy*; D051379:Mice; D010641:Phenotype
D002117:Calcitriol