ArticleJournal of endocrinological investigation2019
Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome.
Article in Journal of endocrinological investigation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 18 citations in OpenAlex.
- Functional evaluation of novel compound heterozygous variants in SLC12A3 of Gitelman syndrome.Orphanet journal of rare diseases · 2025Article
- Case Report: Familial hypocalciuric hypercalcemia type 1 with a novel mutation combined with Gitelman syndrome and a review of the literature.Frontiers in endocrinology · 2025Review
- A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature.CEN case reports · 2024Review
- Gitelman syndrome with Graves' disease leading to rhabdomyolysis: a case report and literature review.BMC nephrology · 2023Review
- Gitelman syndrome diagnosed in the first trimester of pregnancy: a case report and literature review.Case reports in perinatal medicine · 2023Article
- Whole-exome sequencing in diagnosing 2 cases of Gitelman syndrome.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2022Article
- Long-term Clinical Course after Living Kidney Donation by a Patient with Gitelman Syndrome Harboring a Compound Heterozygous Mutation of the SLC12A3 Gene.Internal medicine (Tokyo, Japan) · 2021Article
- Type 2 diabetes mellitus caused by Gitelman syndrome-related hypokalemia: A case report.Medicine · 2020Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
contextGitelman syndrome (GS) is clinically heterogeneous. The genotype and phenotype correlation has not been well established. Though the long-term prognosis is considered to be favorable, hypokalemia is difficult to cure.
objectiveTo analyze the clinical and genetic characteristics and treatment of all members of 13 GS pedigrees.
methodsThirteen pedigrees (86 members, 17 GS patients) were enrolled. Symptoms and management, laboratory findings, and genotype-phenotype associations among all the members were analyzed.
resultsThe average ages at onset and diagnosis were 27.6 ± 10.2 years and 37.9 ± 11.6 years, respectively. Males were an average of 10 years younger and exhibited more profound hypokalemia than females. Eighteen mutations were detected. Two novel mutations (p.W939X, p.G212S) were predicted to be pathogenic by bioinformatic analysis. GS patients exhibited the lowest blood pressure, serum K
conclusionThe phenotypic variability of GS and therapeutic strategies deserve further research to improve GS diagnosis and prognosis. Even heterozygous carriers exhibited increased 24-h Na
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