A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome [PDF]
Brazilian Journal of Medical and Biological Research, 2016 Loss of function of mutated solute carrier family 12 member 3 (SLC12A3) gene is the most frequent etiology for Gitelman syndrome (GS), which is mainly manifested by hypokalemia, hypomagnesemia and hypocalciuria.
Y. Zhang +7 more
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Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome [PDF]
Nephrology Dialysis Transplantation, 2008 Loss-of-function mutations in SLC12A3 coding for the thiazide-sensitive NaCl cotransporter (NCC) cause Gitelman's syndrome (GS), a recessively inherited salt-losing tubulopathy. Most GS patients are compound heterozygous. However, up to 30% of GS patients carry only a single mutant allele, and a normal SLC12A3 screening is also observed in a small ...
Riveira-Munoz, E. +10 more
openaire +4 more sources
Gitelman syndrome with a novel frameshift variant in SLC12A3 gene accompanied by chronic kidney disease and type 2 diabetes mellitus. [PDF]
CEN Case Rep, 2022 Iio K +10 more
europepmc +2 more sources
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
doaj +3 more sources
SLC12A3 Variation and Renal Function in Chinese Patients With Hypertension
Frontiers in Medicine, 2022 ObjectiveSLC12A3 (solute carrier family 12 member 3) gene variants are associated with diabetic nephropathy; however, their association with hypertensive nephropathy remains unknown.
Chin-Chou Huang +32 more
doaj +3 more sources
Kidney & Blood Pressure Research, 2016 Background/Aims: Hypertension or persistent high blood pressure (BP) is a leading cause of death worldwide. Extensive evidence indicates that the thiazide-sensitive Na+-Cl- cotrans-porter (NCC) affects BP via regulation of renal sodium reabsorption ...
Caiyan An +3 more
doaj +2 more sources
A case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene.
Nefrología (English Edition), 2016 INTRODUCTION Hypokalaemia is a common clinical problem. A potential but commonly overlooked cause of hypokalaemia is Gitelman syndrome. MATERIAL AND METHODS A 26-year-old man was admitted to the hospital due to syncope with general and muscular ...
W. Wołyniec +7 more
semanticscholar +9 more sources
Gitelman Syndrome Presenting With Syncope and Treatment-Refractory Hypokalemia in A Young Woman: A Case Report. [PDF]
Clin Case RepABSTRACT Gitelman syndrome (GS) is a rare autosomal recessive tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. A 27‐year‐old woman presented with a witnessed syncopal episode, progressive weakness, and nausea.
Melkie IS +5 more
europepmc +2 more sources
Novel Pathogenic Genotype in SLC12A3 Associated to Gitelman Syndrome: A Case Report. [PDF]
Nephrology (Carlton)ABSTRACT Gitelman syndrome (GS) is considered one of the most common hereditary renal tubular disorders, characterised by hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. The primary cause of this disorder resides in the SLC12A3 gene, which encodes the NaCl cotransporter in the distal convoluted tubule, and for which more than 500 ...
Tomás-Simó P +5 more
europepmc +2 more sources
The miRNA Expression of Urinary Extracellular Vesicles in Patients With Gitelman Syndrome: The Role of hsa-let-7d-3p. [PDF]
FASEB JThis study identifies differentially expressed miRNAs in urinary extracellular vesicles and kidney biopsies from Gitelman syndrome patients. In particular, hsa‐let‐7d‐3p is the only upregulated miRNA that negatively regulates NEDD4L, a key modulator of sodium transport.
Chen CT +8 more
europepmc +2 more sources