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Open Access 01-09-2018 | Original Article

Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations

Authors: Douglas Chesher, Michael Oddy, Ulpee Darbar, Parag Sayal, Adrian Casey, Aidan Ryan, Annalisa Sechi, Charlotte Simister, Aoife Waters, Yehani Wedatilake, Robin H. Lachmann, Elaine Murphy

Published in: Journal of Inherited Metabolic Disease | Issue 5/2018

Abstract

X-linked hypophosphatemia (XLH) is the most common monogenic disorder causing hypophosphatemia. This case-note review documents the clinical features and the complications of treatment in 59 adults (19 male, 40 female) with XLH. XLH is associated with a large number of private mutations; 37 different mutations in the PHEX gene were identified in this cohort, 14 of which have not been previously reported. Orthopaedic involvement requiring surgical intervention (osteotomy) was frequent. Joint replacement and decompressive laminectomy were observed in those older than 40 years. Dental disease (63%), nephrocalcinosis (42%), and hearing impairment (14%) were also common. The rarity of the disease and the large number of variants make it difficult to discern specific genotype-phenotype relationships. A new treatment, an anti-FGF23 antibody, that may affect the natural history of the disease is currently being investigated in clinical trials.

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Title: Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations
Authors: Douglas Chesher
Michael Oddy
Ulpee Darbar
Parag Sayal
Adrian Casey
Aidan Ryan
Annalisa Sechi
Charlotte Simister
Aoife Waters
Yehani Wedatilake
Robin H. Lachmann
Elaine Murphy
Publication date: 01-09-2018
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 5/2018
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-018-0147-6

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