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J Inherit Metab Dis. 2018 Sep;41(5):865-876. doi: 10.1007/s10545-018-0147-6. Epub 2018 Feb 19.

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

Author information

1
Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
2
New South Wales Health Pathology, Royal North Shore Hospital, St Leonards, NSW, Australia.
3
Department of Trauma and Orthopaedics, University College London Hospitals NHS Foundation Trust, London, UK.
4
Department of Periodontology, Eastman Dental Hospital, London, UK.
5
Department of Neurosurgery, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
6
Chemical Pathology and Metabolic Medicine, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
7
Centre for Rare Disease, Academic Hospital of Udine, Udine, Italy.
8
Institute of Child Health, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
9
Imperial College London NHS Foundation Trust, London, UK.
10
Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK. elaine.murphy8@nhs.net.

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.

KEYWORDS:

Dental abcess; Enthesopathy; Nephrocalcinosis; Osteotomy; PHEX; Phosphate regulating endopeptidase homologue; X-linked hypophosphatemia; XLH

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