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.
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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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Case report: Two novel compound heterozygous variant of SLC12A3 gene in a gitelman syndrome family and literature review. [PDF]
Front GenetA 36-year-old unmarried male chef was incidentally diagnosed with hypokalemia during an evaluation for an acute perianal abscess. Despite potassium supplementation, he developed progressive weakness in his lower limbs, culminating in an inability to ...
Ji X, Zhao N, Liu H, Wu Y, Liu L.
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Complicated Gitelman syndrome and autoimmune thyroid disease: a case report with a new homozygous mutation in the SLC12A3 gene and literature review [PDF]
BMC Endocrine Disorders, 2018 Background Gitelman syndrome (GS) is an inherited autosomal recessive renal tubular disorder characterized by low levels of potassium and magnesium in the blood, decreased excretion of calcium in the urine, and elevated blood pH.
Haiyang Zhou +10 more
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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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Gitelman syndrome – A new mutation in the SLC12A3 gene
Nefrología, 2022 Ana Luísa Correia +2 more
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Exonic mutations in the SLC12A3 gene cause exon skipping and premature termination in Gitelman syndrome. [PDF]
J Am Soc Nephrol, 2015 A variety of genetic backgrounds cause the loss of function of thiazide-sensitive sodium chloride cotransporter, encoded by SLC12A3, responsible for the phenotypes in Gitelman syndrome. Recently, the phenomenon of exon skipping, in which exonic mutations result in abnormal splicing, has been associated with various diseases.
Takeuchi Y +13 more
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A Pedigree with c.179 Cytosine to Threonine Missense Mutation of SLC12A3 Gene Presenting Gitelman's Syndrome. [PDF]
Electrolyte Blood Press, 2016 A 42-year-old man came to the hospital presenting chest discomfort and general weakness. He had come to the hospital with the same symptoms 3 months ago and 12 years prior. His laboratory test showed hypokalemia, hypomagnesemia and hypocalciuria.
Kim Y +5 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.
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CRISPR-Cas9-Mediated Correction of SLC12A3 Gene Mutation Rescues the Gitelman's Disease Phenotype in a Patient-Derived Kidney Organoid System. [PDF]
Int J Mol Sci, 2023 The aim of this study is to explore the possibility of modeling Gitelman’s disease (GIT) with human-induced pluripotent stem cell (hiPSC)-derived kidney organoids and to test whether gene correction using CRISPR/Cas9 can rescue the disease phenotype of ...
Lim SW +9 more
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