ArticleJournal of the American Society of Nephrology : JASN2019
Resistance to Insulin in Patients with Gitelman Syndrome and a Subtle Intermediate Phenotype in Heterozygous Carriers: A Cross-Sectional Study.
Article in Journal of the American Society of Nephrology : JASN, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 51 citations in OpenAlex.
- Unmasking of a HeterozygousKidney medicine · 2026Article
- Gitelman Syndrome Presenting With Syncope and Treatment-Refractory Hypokalemia in A Young Woman: A Case Report.Clinical case reports · 2026Article
- Beyond expensive innovations: affordable and effective strategies for managing tubulopathies in adults.Clinical kidney journal · 2026Review
- Higher Expression of miR-155 and miR-103 in Patients with Gitelman Syndrome: Potential Implications for Angiotensin II-Induced Cardiovascular Remodeling in Hypertension.Kidney & blood pressure research · 2026Article
- Co-occurrence of Gitelman syndrome and turner syndrome: a Case Report and literature review.Frontiers in genetics · 2026Article
- Clinical Characteristics, Symptoms, and Long-Term Outcomes in Gitelman Syndrome.Kidney international reports · 2025Article
- The role of SLC12A3 gene variant c.1964G > A in co-existing Gitelman syndrome and unilateral limb paralysis: a case report and literature review.BMC nephrology · 2025Review
- Functional evaluation of novel compound heterozygous variants in SLC12A3 of Gitelman syndrome.Orphanet journal of rare diseases · 2025Article
- Genotype-phenotype correlations in children with Gitelman syndrome.Clinical and experimental nephrology · 2024Article
- Navigating the multifaceted intricacies of the NaPhysiological reviews · 2024Review
- Two Brothers from Macedonia with Gitelman Syndrome.Balkan journal of medical genetics : BJMG · 2023Article
- Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.Kidney international reports · 2023Article
- The first compound heterozygous mutations in SLC12A3 and PDX1 genes: a unique presentation of Gitelman syndrome with distinct insulin resistance and familial diabetes insights.Frontiers in endocrinology · 2023Article
- Comment to "Recommendation on an updated standardization of serum magnesium reference ranges".European journal of nutrition · 2022Article
- Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2022Article
- Gitelman syndrome with a novel frameshift variant in SLC12A3 gene accompanied by chronic kidney disease and type 2 diabetes mellitus.CEN case reports · 2022Article
- Loss of Slc12a2 specifically in pancreatic β-cells drives metabolic syndrome in mice.PloS one · 2022Article
- Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians.International journal of molecular sciences · 2021Review
- Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome.NPJ genomic medicine · 2021Article
- Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases.Scientific reports · 2021Article
Corrections and comments
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Authors and funding
19 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGitelman syndrome is a salt-losing tubulopathy caused by mutations in the
methodsTo evaluate the phenotype of heterozygous carriers of pathogenic
resultsWe enrolled 242 participants, aged 18-75 years, including 81 heterozygous carriers, 82 healthy noncarriers, and 79 patients with Gitelman syndrome. The three groups had similar age, sex ratio, and body mass index. Compared with healthy noncarriers, heterozygous carriers showed significantly higher serum calcium concentration (
conclusionsHeterozygous carriers had a weak intermediate phenotype, between that of healthy noncarriers and patients with Gitelman syndrome. Moreover, the latter are at risk for development of type 2 diabetes, indicating the heightened importance of body weight control in these patients.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.