Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene [PDF]
Reumatismo, 2020 Gitelman syndrome (GS) is an inherited salt-wasting tubulopathy characterized by hypocalciuria, hypokalemia, hypomagnesemia and metabolic alkalosis, due to inactivating mutations in the SLC12A3 gene. Symptoms may be systemic, neurological, cardiovascular,
E. Conticini +6 more
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A novel mutation of SLC12A3 gene causing Gitelman syndrome. [PDF]
SAGE Open Med Case Rep, 2022 A 48-year-old patient with a history of diabetes mellitus, presented to a surgical ward with abdominal pain. She was found to have hypokalemia. Her younger sister had passed away due to sudden cardiac death at the age of 25 years.
De Silva N +7 more
europepmc +4 more sources
Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome. [PDF]
Med Sci Monit, 2019 Background The incidence of Gitelman syndrome (GS) has been increasing in our hospital. The aim of this study was to explore the diagnostic accuracy and features of SLC12A3 gene in Chinese patients with GS.
Zeng Y +6 more
europepmc +5 more sources
Novel Intronic Mutations of the SLC12A3 Gene in Patients with Gitelman Syndrome
International Journal of General Medicine, 2023 Zeli Xun,1,* Pengfei Gao,2,3,* Yanan Du,1 Xue Yan,3 Jingmin Yang,2– 4 Zhihua Wang1 1Department of Endocrinology, Xi’an Children’s Hospital, Shanxi, People’s Republic of China; 2State Key Laboratory of Genetic Engineering, School of Life Sciences,
Xun Z +5 more
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Gitelman syndrome caused by a rare homozygous mutation in the SLC12A3 gene: A case report. [PDF]
World J Clin Cases, 2020 BACKGROUND Gitelman syndrome (GS) is an unusual, autosomal recessive salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria.
Yu RZ, Chen MS.
europepmc +4 more sources
Egyptian Journal of Medical Human Genetics, 2022 Background Gitelman syndrome is a rare autosomal recessive salt-wasting tubulopathy characterized by low potassium and magnesium levels in the blood, decreased excretion of calcium in the urine, and metabolic alkalosis.
Melis Akpinar Gozetici +2 more
doaj +3 more sources
Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report. [PDF]
World J Clin Cases, 2019 BACKGROUND To screen for possible pathogenic loci in a patient with Gitelman syndrome by high-throughput exome sequencing and to explore the relationship between genotype and phenotype.
Wang CL.
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Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome [PDF]
BMC Pediatrics, 2019 Background Gitelman syndrome (GS) is an autosomal recessive disorder and mild variant of classic Bartter syndrome. The latter is caused by defects in the genes CLCNKB and/or CLCNKA (chloride voltage-gated channel Ka and Kb). Patients with GS usually have
Yuanmei Kong +6 more
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Gitelman syndrome – A new mutation in the SLC12A3 gene
Nefrología, 2022 Ana Luísa Correia +2 more
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Novel heterozygous mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome: A care-compliant case report. [PDF]
Medicine (Baltimore), 2023 Rationale: The diagnosis of Gentleman syndrome (GS) is usually delayed because the clinical symptoms are easily mistaken. Patient concerns: A 19-year-old male patient was referred to endocrinology due to intermittent twitch of extremities for ...
Bi Y, Kuang MY, Li ML.
europepmc +2 more sources