ArticlePediatric nephrology (Berlin, Germany)2010
Early appearance of hypokalemia in Gitelman syndrome.
Article in Pediatric nephrology (Berlin, Germany), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 42 citations in OpenAlex.
- Semi-automated genomic newborn screening highlights complexities in reporting.NPJ genomic medicine · 2026Article
- Coexistence of 21-hydroxylase deficiency and Gitelman syndrome in a neonate presenting with severe hyponatremic seizures: a case report.Frontiers in endocrinology · 2026Article
- Genetic background of neonatal hypokalemia.Pediatric nephrology (Berlin, Germany) · 2025Review
- An early onset Gitelman syndrome presenting in a boy with failure to thrive with recurrent hypokalemia and hypomagnesemia: a case report.The Pan African medical journal · 2024Article
- Long-Term Indomethacin Treatment in a Chinese Child with Gitelman Syndrome: Case Report and Literature Review on its Efficacy and Tolerance.The American journal of case reports · 2023Review
- Two Brothers from Macedonia with Gitelman Syndrome.Balkan journal of medical genetics : BJMG · 2023Article
- Novel compound heterozygous mutation ofWorld journal of clinical cases · 2022Article
- Early diagnosis of Gitelman syndrome in a young child: A case report.World journal of clinical cases · 2022Article
- Diagnosis and outpatient management of Gitelman syndrome from the first trimester of pregnancy.BMJ case reports · 2021Article
- Novel SLC12A3 mutation in Gitelman syndrome.BMJ case reports · 2021Article
- Gitelman Syndrome: A Rare Cause of Seizure Disorder and a Systematic Review.Case reports in medicine · 2019Article
- A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree.BMC medical genetics · 2018Article
- Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients.Frontiers in endocrinology · 2018Article
- Potassium regulation in the neonate.Pediatric nephrology (Berlin, Germany) · 2017Article
- Mutation profile and treatment of Gitelman syndrome in Chinese patients.Clinical and experimental nephrology · 2017Article
- Comment on Gitelman's syndrome: Rare presentation with growth retardation.Indian journal of nephrology · 2014Article
- A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin.Clinical kidney journal · 2014Article
- SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.Pediatric nephrology (Berlin, Germany) · 2012Article
- Gitelman's syndrome: a pathophysiological and clinical update.Endocrine · 2012Review
- Gitelman syndrome in an infant.Indian journal of nephrologyArticle
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Authors and funding
8 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive co-transporter causes Gitelman syndrome. The main features of this syndrome include normal or low blood pressure, hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, and hyperreninemia. These patients are at low risk for preterm birth and do not present with symptoms before school age. As a consequence, the condition is usually diagnosed in late childhood or in adult life. We report on four patients, two pairs of prematurely born twins, in whom hypokalemia was demonstrated early in life. In these children, a tendency towards hypokalemia was first noted during the third week of life. Overt hypokalemia subsequently appeared associated with normal blood pressure, hypochloremia, hyperreninemia, and an inappropriately high fractional excretion of potassium and chloride. Molecular biology studies failed to detect mutations in the SLC12A1, KCNJ1, and CLCNKB genes responsible for the Bartter syndromes type I, II and III, respectively. Compound heterozygous mutations in the SLC12A3 gene were detected in both pairs of twins: a frameshift mutation in exon 10 (c.1196_1202dup7bp), leading to the truncated protein p.Ser402X, and a missense mutation in exon 11, p.Ser475Cys (c.1424C>G) in the first pair; two missense mutations, p.Thr392Ile (c.1175C>T) in exon 9 and p.Ser615Leu in exon 15 (c.1844C>T), in the second pair. In conclusion, the diagnosis of Gitelman syndrome deserves consideration in infants with unexplained hypokalemia.
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