ArticleBMC nephrology2018
A case of hypokalemia and proteinuria with a new mutation in the SLC12A3 Gene.
Article in BMC nephrology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 11 citations in OpenAlex.
- Artificial Intelligence and Machine Learning Models for Predicting Drug-Induced Kidney Injury in Small Molecules.Pharmaceuticals (Basel, Switzerland) · 2024Article
- A case of advanced breast cancer with Gitelman syndrome.International cancer conference journal · 2023Article
- Novel Intronic Mutations of theInternational journal of general medicine · 2023Article
- Clinicopathological Features of Gitelman Syndrome with Proteinuria and Renal Dysfunction.Nephron · 2023Article
- A case of Gitelman syndrome with membranous nephropathy.BMC nephrology · 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
- A novel homozygous mutation (p.N958K) of SLC12A3 in Gitelman syndrome is associated with endoplasmic reticulum stress.Journal of endocrinological investigation · 2021Article
- Kidney stones and moderate proteinuria as the rare manifestations of Gitelman syndrome.BMC nephrology · 2021Article
- Novel heterozygous missense mutation ofWorld journal of clinical cases · 2019Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGitelman syndrome is an autosomal recessive inherited renal disorder characterized by hypokalemia, hypomagnesemia, and hypocalciuria. Since the symptoms are not severe and laboratory results are not always clear, Gitelman syndrome can go unnoticed by physicians. Here, we report our experiences with a patient that presented with hypokalemia and proteinuria; genetic analysis revealed a new homozygous mutation in the SLC12A3 gene. CASE PRESENTATION: A 47-year-old man presented with hypokalemia and proteinuria. He had come to the hospital with the same symptoms 11 months and 3 years prior. His laboratory tests showed hypokalemia, hypocalciuria, and increased plasma angiotensin-2 activity. His renal pathology was consistent with the development of minimal lesions. Genetic analysis found a new homozygous mutation in exon 6 on the SLC12A3 gene (p.Trp281Arg) in the patient and in his brother; his mother and sister were diagnosed as heterozygous carriers of the same gene mutation. Finally, the patient was diagnosed with Gitelman syndrome.
conclusionsThis case is the first to report a homozygous mutation in the 841th nucleotide of exon 6 on the SLC12A3 gene (p.Trp281Arg), which may cause Gitelman syndrome. At the same time, this report might stimulate interest in discussing the relationship between different mutations in the SLC12A3 gene and renal pathology.
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