Novel compound heterozygous variants of SLC12A3 gene in a Chinese patient with Gitelman syndrome: a case report [PDF]
Frontiers in Genetics, 2023 Background: The Gitelman syndrome (GS) is an autosomal recessive disorder of renal tubular salt handling. Gitelman syndrome is characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, and renin-angiotensin-aldosterone system ...
Wenqing Chen +19 more
doaj +5 more sources
Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome [PDF]
Molecular Genetics & Genomic Medicine, 2023 Background Gitelman syndrome (GS) is a type of salt‐losing tubular disease, most of which is caused by SLC12A3 gene variants, and missense variants account for the majority.
Xiaomeng Shi +10 more
doaj +5 more sources
A case of hypokalemia and proteinuria with a new mutation in the SLC12A3 Gene [PDF]
BMC Nephrology, 2018 Background Gitelman 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 ...
Qin Chen +4 more
doaj +6 more sources
A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree [PDF]
BMC Medical Genetics, 2018 Background Gitelman syndrome (GS) is an autosomal recessive disorder caused by genic mutations of SLC12A3 (Solute carrier family 12 member 3), which encodes the Na-Cl cotransporter (NCC), and presents with characteristic metabolic abnormalities ...
Yixin Chen +5 more
doaj +6 more sources
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
Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report [PDF]
BMC Nephrology, 2017 Background Gitelman syndrome (GS) is a rare autosomal recessively inherited salt-wasting tubulopathy associated with mutations in the SLC12A3 gene, which encodes for NaCl cotransporter (NCC) in the kidney.
Chandrika Jayakanthi Subasinghe +6 more
doaj +6 more sources
A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome with diabetes and the choices of the appropriate hypoglycemic drugs: a case report [PDF]
BMC Medical Genomics, 2021 Background Gitelman syndrome (GS) is an autosomal recessive tubulopathy caused by mutations of the SLC12A3 gene. It is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria.
Zhiying Liu +5 more
doaj +3 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
Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes [PDF]
BMC Nephrology, 2020 Background Gitelman syndrome is a rare salt-losing renal tubular disorder associated with mutation of SLC12A3 gene, which encodes the Na-Cl co-transporter (NCCT).
Bingzi Dong +7 more
doaj +3 more sources
Arg913Gln variation of SLC12A3 gene is associated with diabetic nephropathy in type 2 diabetes and Gitelman syndrome: a systematic review [PDF]
BMC Nephrology, 2019 Background Diabetic nephropathy is a global common cause of chronic kidney disease and end-stage renal disease. A lot of research has been conducted in biomedical sciences, which has enhanced understanding of the pathophysiology of diabetic nephropathy ...
Eduardo De la Cruz-Cano +7 more
doaj +3 more sources