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Article

Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations.

BioMed research international - 1 Jan 2021

Zhang Jian-Hui, Ruan Dan-Dan, Hu Ya-Nan, Ruan Xing-Lin, Zhu Yao-Bin, Yang Xiao, Wu Jia-Bin, Lin Xin-Fu, Luo Jie-Wei, Tang Fa-Qiang

Abstract excerpt

Gitelman syndrome (GS) is an autosomal recessive inherited salt-losing renal tubular disease, which is caused by a pathogenic mutation of SLC12A3 encoding thiazide-sensitive Na-Cl cotransporter, which leads to disturbance of sodium and chlorine reabsorption in renal distal convoluted tubules, resulting in phenotypes such as hypovolemia, renin angiotensin aldosterone system (RAAS) activation, hypokalemia, and...

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Identifiers

PMID: 34046503
DOI: 10.1155/2021/9973161
PMCID: PMC8128541

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