Journal
JOURNAL OF INHERITED METABOLIC DISEASE
Volume 41, Issue 5, Pages 865-876Publisher
SPRINGER
DOI: 10.1007/s10545-018-0147-6
Keywords
X-linked hypophosphatemia; XLH; Phosphate regulating endopeptidase homologue; PHEX; Osteotomy; Enthesopathy; Nephrocalcinosis; Dental abcess
Funding
- Department of Health's NIHR Biomedical Research Centres' funding scheme
- MRC [MR/K010654/1] Funding Source: UKRI
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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 40years. 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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