Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemia.
PHEX
X-linked dominant hypophosphatemia
clinical features
fibroblast growth factor 23
gene mutation
Journal
Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782
Informations de publication
Date de publication:
2022
2022
Historique:
received:
30
05
2022
accepted:
02
08
2022
entrez:
5
9
2022
pubmed:
6
9
2022
medline:
9
9
2022
Statut:
epublish
Résumé
The aim of this study was to fully describe the clinical and genetic characteristics, including clinical manifestations, intact fibroblast growth factor 23 (iFGF23) levels, and presence of Demographic data, clinical features, biochemical indicators, and imaging data of 29 patients were collected. All 22 exons and exon-intron boundaries of the Twenty-nine patients (male/female: 13:16, juvenile/adult: 15:14) with XLH were included. The main symptoms were bowed lower extremities (89.7%), abnormal gait (89.7%), and short stature/growth retardation (78.6%). Hypophosphatemia with a high alkaline phosphatase level was the main biochemical feature and the median value of serum iFGF23 was 55.7 pg/ml (reference range: 16.1-42.2 pg/ml). Eight novel mutations in the Our study expanded the clinical phenotypes and gene mutation spectrum of XLH and provided a reference for the optimal timing of orthopedic surgeries.
Identifiants
pubmed: 36060934
doi: 10.3389/fendo.2022.956646
pmc: PMC9437435
doi:
Substances chimiques
PHEX Phosphate Regulating Neutral Endopeptidase
EC 3.4.24.-
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
956646Informations de copyright
Copyright © 2022 Xu, Tao, Zhang and Yue.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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