Gitelman Syndrome | List of Frontiers open access articles

Case Report

Published on 07 Jun 2023

Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review

in Pediatric Nephrology

Jakub Zieg
Terezia Tavačová
Miroslava Balaščáková
Petra Peldová
Filip Fencl
Peter Kubuš

Frontiers in Pediatrics

doi 10.3389/fped.2023.1188098

4,221 views
3 citations

Original Research

Published on 24 Sep 2018

Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients

in Translational and Clinical Endocrinology

Xiaoyan Peng
Bingbin Zhao
Lei Zhang
Lanping Jiang
Tao Yuan
Ying Wang
Haiyun Wang
Jie Ma
Naishi Li
Ke Zheng

Frontiers in Endocrinology

doi 10.3389/fendo.2018.00559

8,768 views
18 citations

Case Report

Published on 25 Mar 2026

Case Report: Gitelman syndrome with a suspected MEFV- associated autoinflammatory phenotype: diagnostic challenges in a complex case

in Autoimmune and Autoinflammatory Disorders: Autoinflammatory Disorders

Yu Li
Yun Lu
Yue Wang
Xiaotian Yang
Qiuchi Zhang
Yu Xie

Frontiers in Immunology

doi 10.3389/fimmu.2026.1784807

431 views

Case Report

Published on 12 Jan 2026

Gitelman syndrome in a pediatric patient: a case report and literature review

in Pediatric Nephrology

Tianhong Sun
Jing Yang
Jiajia Luo
Lina Ma

Frontiers in Pediatrics

doi 10.3389/fped.2025.1683867

1,151 views

Original Research

Published on 29 Apr 2021

Clinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome

in Pediatric Nephrology

Lingxia Zhang
Ke Huang
Shugang Wang
Haidong Fu
Jingjing Wang
Huijun Shen
Zhihong Lu
Junyi Chen
Yu Bao
Chunyue Feng

Frontiers in Pediatrics

doi 10.3389/fped.2021.544925

6,223 views
12 citations

Original Research

Published on 09 Jun 2021

Urinary Extracellular Vesicles for Renal Tubular Transporters Expression in Patients With Gitelman Syndrome

in Nephrology

Chih-Chien Sung
Min-Hsiu Chen
Yi-Chang Lin
Yu-Chun Lin
Yi-Jia Lin
Sung-Sen Yang
Shih-Hua Lin

Frontiers in Medicine

doi 10.3389/fmed.2021.679171

4,950 views
14 citations

Review

Published on 03 May 2022

Genetic and Biological Effects of SLC12A3, a Sodium-Chloride Cotransporter, in Gitelman Syndrome and Diabetic Kidney Disease

in Genetics of Common and Rare Diseases

Nan Li
Harvest F. Gu

Frontiers in Genetics

doi 10.3389/fgene.2022.799224

10,340 views
16 citations

Case Report

Published on 11 Jul 2024

Case report: Two novel compound heterozygous variant of SLC12A3 gene in a gitelman syndrome family and literature review

in Genetics of Common and Rare Diseases

Xiaochen Ji
Nan Zhao
Haixia Liu
Yutong Wu
Lichao Liu

Frontiers in Genetics

doi 10.3389/fgene.2024.1391015

3,517 views
3 citations

Original Research

Published on 25 Jan 2024

The first compound heterozygous mutations in SLC12A3 and PDX1 genes: a unique presentation of Gitelman syndrome with distinct insulin resistance and familial diabetes insights

in Renal Endocrinology

Yaqi Yin
Liqin Li
Songyan Yu
Yu Xin
Lili Zhu
Xiao Hu
Kang Chen
Weijun Gu
Yiming Mu
Li Zang

Frontiers in Endocrinology

doi 10.3389/fendo.2023.1327729

3,564 views
5 citations

Case Report

Published on 25 Feb 2025

Case Report: Familial hypocalciuric hypercalcemia type 1 with a novel mutation combined with Gitelman syndrome and a review of the literature

in Bone Research

Taoyuan He
Xinyu Li
Guosheng Li
Wanyang Wang
Hongjun Fu
Zhengnan Gao
Xuhan Liu

Frontiers in Endocrinology

doi 10.3389/fendo.2025.1503128

3,867 views

Case Report

Published on 12 Jun 2023

Novel compound heterozygous variants of SLC12A3 gene in a Chinese patient with Gitelman syndrome: a case report

in Genetics of Common and Rare Diseases

Wenqing Chen
Qin Zhou
Hongjun Chen
Heng Li
Jianghua Chen

Frontiers in Genetics

doi 10.3389/fgene.2023.1067242

3,330 views

Original Research

Published on 14 Aug 2025

Pseudohypoparathyroidism type 1B mimicking gitelman syndrome: diagnostic pitfalls and molecular insights

in Genetics of Common and Rare Diseases

Yiming Zhao
Lijun Mou
Oumayma Akaaboune
Jiudan Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1638472

2,482 views
2 citations

Case Report

Published on 05 Mar 2026

Case Report: Long-term follow-up of a schoolboy with Gitelman syndrome and epilepsy—causation or coincidence?

in Genetics of Common and Rare Diseases

Jiao Xue
Ying Zhang
Hongshan Zhao
Fei Li
Chengqing Yang
Zhi Yi
Kaixuan Liu
Zhenfeng Song

Frontiers in Pediatrics

doi 10.3389/fped.2026.1772948

336 views

Articles

Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review

Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients

Case Report: Gitelman syndrome with a suspected MEFV- associated autoinflammatory phenotype: diagnostic challenges in a complex case

Gitelman syndrome in a pediatric patient: a case report and literature review

Clinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome

Urinary Extracellular Vesicles for Renal Tubular Transporters Expression in Patients With Gitelman Syndrome

Genetic and Biological Effects of SLC12A3, a Sodium-Chloride Cotransporter, in Gitelman Syndrome and Diabetic Kidney Disease

Case report: Two novel compound heterozygous variant of SLC12A3 gene in a gitelman syndrome family and literature review

The first compound heterozygous mutations in SLC12A3 and PDX1 genes: a unique presentation of Gitelman syndrome with distinct insulin resistance and familial diabetes insights

Case Report: Familial hypocalciuric hypercalcemia type 1 with a novel mutation combined with Gitelman syndrome and a review of the literature

Novel compound heterozygous variants of SLC12A3 gene in a Chinese patient with Gitelman syndrome: a case report

Pseudohypoparathyroidism type 1B mimicking gitelman syndrome: diagnostic pitfalls and molecular insights

Case Report: Long-term follow-up of a schoolboy with Gitelman syndrome and epilepsy—causation or coincidence?