Correlation between genotypes with metabolic markers and microstructure of bones in children with Gitelman syndrome.
10.3760/cma.j.cn511374-20200922-00682
- Author:
Mingying ZHANG
1
;
Le HUANG
;
Xiaoping JIANG
;
Ling LYU
;
Yan ZHAO
;
Ying ZHONG
;
Long GAO
Author Information
1. Department of Pediatric Endocrinology, Tianjin Children's Hospital, Tianjin 300134, China. lvlingdaifu@163.com.
- Publication Type:Journal Article
- MeSH:
Biomarkers;
Bone and Bones;
Child;
Collagen Type I/genetics*;
Genotype;
Gitelman Syndrome;
Humans;
Osteocalcin/genetics*;
Peptide Fragments;
Solute Carrier Family 12, Member 3
- From:
Chinese Journal of Medical Genetics
2021;38(11):1087-1090
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the correlation between the genotypes and metabolic markers and microstructure of bones in children with Gitelman syndrome (GS).
METHODS:For 15 children with GS and 10 healthy individuals, baseline data and bone metabolic markers including parathyroid hormone, alkaline phosphatase, osteocalcin, N-terminal propeptide of type I procollagen, beta isomer of the C-terminal telopeptide of type I collagen and 25-hydroxyvitamin D, high-resolution peripheral quantitative computed tomography indicators (volumetric bone mineral density, bone microstructure indicators) were collected. Genetic testing was carried out to determine their genotypes.
RESULTS:The volumetric bone mineral density, bone geometry and bone microstructure parameters of the GS group were better than those of the healthy controls (P<0.05). Variants of the SLC12A3 gene were identified in 9 of the 15 patients but none of the 10 healthy controls.
CONCLUSION:The phenotype of GS children is influenced by the interaction of genetic variants, though the phenotype associated with high frequency mutations showed no specificity. There is also a correlation between their genotype and the bone microstructure.
