ArticleEndocrine2007
Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome.
Article in Endocrine, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 29 citations in OpenAlex.
- Co-occurrence of Gitelman syndrome and turner syndrome: a Case Report and literature review.Frontiers in genetics · 2026Article
- 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
- Novel compound heterozygous mutation ofWorld journal of clinical cases · 2022Article
- Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound HeterozygousBioMed research international · 2021Article
- Inherited salt-losing tubulopathies are associated with immunodeficiency due to impaired IL-17 responses.Nature communications · 2020Article
- Clinical and Genetic Characteristics in Patients With Gitelman Syndrome.Kidney international reports · 2019Article
- Complicated Gitelman syndrome and autoimmune thyroid disease: a case report with a new homozygous mutation in the SLC12A3 gene and literature review.BMC endocrine disorders · 2018Review
- Estrogen synthesis genes CYP19A1, HSD3B1, and HSD3B2 in hypertensive disorders of pregnancy.Endocrine · 2012Article
- Gitelman's syndrome: a pathophysiological and clinical update.Endocrine · 2012Review
- Haplotype-based case study of human CYP4A11 gene and cerebral infarction in Japanese subject.Endocrine · 2008Article
- Article
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gitelman's syndrome is an autosomal recessive disorder marked by salt wasting and hypokalaemia resulting from loss-of-function mutations in the SLC12A3 gene that codes for the thiazide-sensitive Na-Cl cotransporter. Gitelman's syndrome is usually distinguished from Bartter's syndrome by the presence of both hypomagnesaemia and hypocalciuria. Although recent advances in molecular genetics may make it possible to both diagnose and differentiate these diseases, the phenotypes sometimes overlap. Here we report two sporadic cases of Gitelman's syndrome and two novel genotypes of SLC12A3. Patient 1 was a compound heterozygote with a known missense mutation, L849H, and a novel mutation, R852H in exon 22. Patient 2 was homozygous for the missense mutation L849H. To our knowledge, this is the first report of a patient homozygous for 849H. Interestingly, both patients were affected with autoimmune thyroid disease. Patient 1 was affected with Hashimoto's disease, and Patient 2 was affected with Graves' disease. The symptoms of Patient 2 were more serious than those of Patient 1. Although the patients both carried the 849H allele (Patient 1 as a heterozygote and Patient 2 as a homozygous), their clinical symptoms differed. The difference in the clinical features may have been due both to phenotypic differences and the fact that Gitelman's syndrome is a complicated disorder.
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