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Hypophosphatemic rickets: etiology, clinical features and treatment

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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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Authors and Affiliations

  1. Orthopaedic Clinic, University of Catania, Catania, Italy

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

  2. Azienda Ospedaliera Universitaria, Policlinico Vittorio Emanuele, Catania, Italy

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

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  1. Vito Pavone
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  2. Gianluca Testa
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Pavone, V., Testa, G., Gioitta Iachino, S. et al. Hypophosphatemic rickets: etiology, clinical features and treatment. Eur J Orthop Surg Traumatol 25, 221–226 (2015). https://doi.org/10.1007/s00590-014-1496-y

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  • DOI: https://doi.org/10.1007/s00590-014-1496-y

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