ReviewBMC nephrology2018
A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia.
Review in BMC nephrology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- Gitelman Syndrome in a Child Presenting With Polyuria and Polydipsia: Diagnostic Challenges in a Resource-Limited Setting.Case reports in nephrology · 2026Article
- Gitelman Syndrome and Hypertension: A Case Report.Cureus · 2023Article
- Gitelman syndrome: A case report.World journal of clinical cases · 2022Article
- A novel mutation ofSAGE open medical case reports · 2022Article
- Novel heterozygous missense mutation ofWorld journal of clinical cases · 2019Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGitelman syndrome (GS) is a rare autosomal recessive renal tubular disease, caused by mutations in the SLC12A3 gene, which encodes the renal thiazide-sensitive Na/Cl cotransporter (NCCT) in the distal renal tubule. CASE PRESENTATION: A 23-year-old woman was admitted with limb numbness, recurrent tetany and palpitation. Laboratory tests showed hypokalemic alkalosis, hypomagnesemia, hypocalcemia and secondary hyperaldosteronism, as well as hypocalciuria and transient decreased PTH. Next-generation sequencing detected a novel homozygous mutations c.2039delG in the SLC12A3 gene, and her father and children were all heterozygous carriers.
conclusionWe reported a case of GS with a novel homozygous frame-shift mutation of SLC12A3, and reviewed recent literatures about diagnosis, differential diagnosis and treatments. Hypocalcemia in Gitelman syndrome is rare, and may be related to inhibited PTH secretion induced by hypomagnesemia.
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