ArticleClinical and experimental nephrology2017
Mutation profile and treatment of Gitelman syndrome in Chinese patients.
Article in Clinical and experimental nephrology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 16 papers.
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16 citing papers in PubMed, 32 citations in OpenAlex.
- Functional evaluation of novel compound heterozygous variants in SLC12A3 of Gitelman syndrome.Orphanet journal of rare diseases · 2025Article
- Navigating the multifaceted intricacies of the NaPhysiological reviews · 2024Review
- A case of Gitelman syndrome with homozygous SLC12A3 deletion presenting with epilepsy.Acta epileptologica · 2023Article
- Novel Intronic Mutations of theInternational journal of general medicine · 2023Article
- Novel compound heterozygous variants ofFrontiers in genetics · 2023Article
- Frequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder.Endocrine connections · 2022Article
- Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome.NPJ genomic medicine · 2021Article
- A novel homozygous mutation (p.N958K) of SLC12A3 in Gitelman syndrome is associated with endoplasmic reticulum stress.Journal of endocrinological investigation · 2021Article
- Clinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome.Frontiers in pediatrics · 2021Article
- Gitelman syndrome caused by a rare homozygous mutation in theWorld journal of clinical cases · 2020Article
- Clinical Characteristics and Gene Mutation Analysis of the Chinese Han Population with Gitelman Syndrome: 3 Case Reports and a Literature Review.Case reports in medicine · 2020Article
- Article
- Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome.Medical science monitor : international medical journal of experimental and clinical research · 2019Article
- A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia.BMC nephrology · 2018Review
- Increased urinary prostaglandin E2 metabolite: A potential therapeutic target of Gitelman syndrome.PloS one · 2017Article
- A tripleHippokratiaArticle
Corrections and comments
- Erratum issued
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGitelman syndrome (GS) is a rare autosomal recessive disease caused by loss-of-function mutations in the SLC12A3 gene, and is characterized by hypokalemia and metabolic alkalosis. In this study, we aimed to study the genotype, phenotype, and treatment in 42 GS patients, the largest sample size so far in mainland China.
methodWe retrospectively studied the clinical data and genetic characteristics of 42 patients diagnosed with GS in Peking Union Medical College Hospital from 2012 to 2015. Therapeutic efficacy of spironolactone and potassium supplements was also studied retrospectively.
resultsEighty-one mutation alleles were found in 42 patients, and total of 52 distinctly different mutation alleles were identified, of which 15 were new mutation alleles. p.Asp486Asn was a hotspot in our series, with the allele frequency being 19.7 % (16/81), and was found in 13 patients (31.0 %). Treatment with spironolactone or potassium supplements alone significantly increased serum potassium concentration by 0.36 ± 0.37 and 0.45 ± 0.35 mmol/l, respectively (both P < 0.05), and combined therapy with spironolactone and potassium increased serum potassium concentration by 0.69 ± 0.64 mmol/l (P < 0.05).
conclusions18.5 % (15/81) mutation sites identified in 42 Chinese GS patients are novel. p.Asp486Asn mutation is a hotspot, which is different from the reports from other countries. Spironolactone could moderately elevate serum potassium level, and spironolactone in combination with potassium supplements tended to be more effective.
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