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

Autor: Charlotte Simister, Parag Sayal, Yehani Wedatilake, Elaine Murphy, Aidan Ryan, Adrian T. H. Casey, Aoife M. Waters, Robin H. Lachmann, Ulpee Darbar, Annalisa Sechi, Douglas Chesher, Michael J Oddy
Rok vydání: 2018
Předmět:
Adult
Male
X-linked hypophosphatemia
Pediatrics
medicine.medical_specialty
PHEX
Adolescent
030209 endocrinology & metabolism
Disease
Enthesopathy
Gene mutation
XLH
Young Adult
03 medical and health sciences
0302 clinical medicine
Genetics
medicine
Humans
Hearing Loss
Genetic Association Studies
Genetics (clinical)
Aged
Randomized Controlled Trials as Topic
business.industry
Laminectomy
Stomatognathic Diseases
Antibodies
Monoclonal
Genetic Diseases
X-Linked
Middle Aged
medicine.disease
PHEX Phosphate Regulating Neutral Endopeptidase
Osteotomy
Fibroblast Growth Factors
Natural history
Nephrocalcinosis
Fibroblast Growth Factor-23
Dental abcess
Mutation
Cohort
Original Article
Female
Familial Hypophosphatemic Rickets
business
Phosphate regulating endopeptidase homologue
030217 neurology & neurosurgery
Hypophosphatemia
Zdroj: Journal of Inherited Metabolic Disease
ISSN: 1573-2665
0141-8955
Popis: 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. Electronic supplementary material The online version of this article (10.1007/s10545-018-0147-6) contains supplementary material, which is available to authorized users.
Databáze: OpenAIRE
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