title: Hypophosphatemic rickets: etiology, clinical features and treatment.
abstract: Hypophosphatemic rickets (HR) is a genetic disorder, which prevents sufficient reabsorption of phosphate in the proximal renal tubule, with increased phosphate excretion, resulting in rickets. The more common form of HR is an X-linked inherited trait, with a prevalence of 1/20,000. The defective gene is located on the X chromosome, but females may present with a wide variety of clinical manifestations. The less common form of HR is caused by autosomal-dominant transmission. Activating mutations of the fibroblast growth factor 23 (FGF-23) gene and inactivating mutations in the phosphate regulating gene (PHEX gene with homologies to endopeptidases on the X chromosome), involved in the regulation of FGF-23, have been identified and have been implicated in the pathogenesis of these disturbances. A review of etiopathogenesis and clinical, differential diagnostic and therapeutic aspects of HR, with a particular emphasis on bone impairment, is reported.
authors: Orthopaedic Clinic, University of Catania, Catania, Italy, vitopavone@hotmail.com.
authors: Vito
authors: V
authors: Pavone
authors: Gianluca
authors: G
authors: Testa
authors: Salvatore
authors: S
authors: Gioitta Iachino
authors: Francesco Roberto
authors: FR
authors: Evola
authors: Sergio
authors: S
authors: Avondo
authors: Giuseppe
authors: G
authors: Sessa
mesh_terms: D001842:Bone and Bones / Q000378:metabolism*; D053098:Familial Hypophosphatemic Rickets / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000628:therapy*; D000089703:Fibroblast Growth Factor-23; D005346:Fibroblast Growth Factors / Q000235:genetics*; D005786:Gene Expression Regulation; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D009154:Mutation; D053402:PHEX Phosphate Regulating Neutral Endopeptidase / Q000235:genetics; D010758:Phosphorus / Q000378:metabolism
chemical_list: C000717427:FGF23 protein, human; D010758:Phosphorus; D005346:Fibroblast Growth Factors; D000089703:Fibroblast Growth Factor-23; D053402:PHEX Phosphate Regulating Neutral Endopeptidase