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- Title
Hypophosphatemic rickets: etiology, clinical features and treatment.
- Authors
Pavone, Vito; Testa, Gianluca; Gioitta Iachino, Salvatore; Evola, Francesco; Avondo, Sergio; Sessa, Giuseppe
- 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.
- Subjects
BONE metabolism; PHOSPHORUS metabolism; RICKETS treatment; DIFFERENTIAL diagnosis; GENETIC disorders; RICKETS; SYMPTOMS; DISEASE complications; HYPOPHOSPHATEMIA; DIAGNOSIS; THERAPEUTICS
- Publication
European Journal of Orthopaedic Surgery & Traumatology, 2015, Vol 25, Issue 2, p221
- ISSN
1633-8065
- Publication type
Article
- DOI
10.1007/s00590-014-1496-y