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European Journal of Orthopaedic Surgery & Traumatology

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01-02-2015 | General Review

Hypophosphatemic rickets: etiology, clinical features and treatment

Authors: Vito Pavone, Gianluca Testa, Salvatore Gioitta Iachino, Francesco Roberto Evola, Sergio Avondo, Giuseppe Sessa

Published in: European Journal of Orthopaedic Surgery & Traumatology | Issue 2/2015

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.

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Title: Hypophosphatemic rickets: etiology, clinical features and treatment
Authors: Vito Pavone
Gianluca Testa
Salvatore Gioitta Iachino
Francesco Roberto Evola
Sergio Avondo
Giuseppe Sessa
Publication date: 01-02-2015
Publisher: Springer Paris
Published in: European Journal of Orthopaedic Surgery & Traumatology / Issue 2/2015
Print ISSN: 1633-8065
Electronic ISSN: 1432-1068
DOI: https://doi.org/10.1007/s00590-014-1496-y

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Hypophosphatemic rickets: etiology, clinical features and treatment

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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