Clinical and genetic characteristics of 29 Chinese patients with X-linked hypophosphatemia.

ABSTRACT:

Objective

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 PHEX gene mutations, of 22 and 7 patients with familial and sporadic X-linked dominant hypophosphatemia (XLH), respectively.

Methods

Demographic data, clinical features, biochemical indicators, and imaging data of 29 patients were collected. All 22 exons and exon-intron boundaries of the PHEX gene were amplified by polymerase chain reaction (PCR) and directly sequenced. The serum level of iFGF23 was measured in 15 of the patients.

Results

Twenty-nine patients (male/female: 13:16, juvenile/adult: 15:14) with XLH were included. The main symptoms were bowed lowe

SUBMITTER: Xu T 

PROVIDER: S-EPMC9437435 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature