Results 1 to 10 of about 6,021 (121)

Genetic and Biological Effects of SLC12A3, a Sodium-Chloride Cotransporter, in Gitelman Syndrome and Diabetic Kidney Disease

Frontiers in Genetics, 2022
The SLC12A3 (Solute carrier family 12 member 3) gene encodes a sodium-chloride cotransporter and mediates Na+ and Cl− reabsorption in the distal convoluted tubule of kidneys.
Nan Li, Harvest F. Gu
doaj   +3 more sources

Gitelman Syndrome Presenting With Syncope and Treatment-Refractory Hypokalemia in A Young Woman: A Case Report. [PDF]

Clin Case Rep
ABSTRACT 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, Wolde AA, Mengesha LY, Kinfe RA, Mengistie CT, Gubai ZY.   +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, Sierra-Rivera A, Checa-Ros A, Rodríguez-López R, Galán-Serrano A, D'Marco L.   +5 more
europepmc   +2 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, Chin-Chou Huang, Chin-Chou Huang, Chin-Chou Huang, Chia-Min Chung, Chia-Min Chung, Chih-Yu Yang, Chih-Yu Yang, Chih-Yu Yang, Hsin-Bang Leu, Hsin-Bang Leu, Hsin-Bang Leu, Hsin-Bang Leu, Po-Hsun Huang, Po-Hsun Huang, Po-Hsun Huang, Po-Hsun Huang, Liang-Yu Lin, Liang-Yu Lin, Liang-Yu Lin, Tao-Cheng Wu, Tao-Cheng Wu, Tao-Cheng Wu, Shing-Jong Lin, Shing-Jong Lin, Shing-Jong Lin, Shing-Jong Lin, Wen-Harn Pan, Wen-Harn Pan, Jaw-Wen Chen, Jaw-Wen Chen, Jaw-Wen Chen, Jaw-Wen Chen   +32 more
doaj   +3 more sources

The miRNA Expression of Urinary Extracellular Vesicles in Patients With Gitelman Syndrome: The Role of hsa-let-7d-3p. [PDF]

FASEB J
This 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, Lin SH, Chen MH, Chang HY, Tseng MH, Lo YJ, Peng KC, Huang CC, Sung CC.   +8 more
europepmc   +2 more sources

Gitelman and Bartter Syndrome in a Patient With Morbid Obesity: A Case Report and Literature Review. [PDF]

Clin Case Rep
ABSTRACT We present a case study of a 34‐year‐old man with morbid obesity and a suspected Bartter–Gitelman spectrum tubulopathy (without genetic confirmation), weighing 135 kg, and with a BMI of 42.5 kg/m2, who was referred to the metabolic and bariatric surgery department due to morbid obesity to address abnormal electrolyte levels.
Hasani S, Rezapanah A, Zandbaf T, Ghamari MJ, Mesbah N.   +4 more
europepmc   +2 more sources

Functional evaluation of novel compound heterozygous variants in SLC12A3 of Gitelman syndrome [PDF]

Orphanet Journal of Rare Diseases
Background Gitelman syndrome (GS) is an inherited renal tubular disorder characterized by hypokalemic alkalosis and hypomagnesemia, due to biallelic pathogenic variants in the solute carrier family 12 member 3 (SLC12A3) gene encoding a sodium-chloride ...
Na Wang, Yuanxing Yang, Xiong Tian, Hongjun Fu, Shuaishuai Chen, Juping Du, Mengyi Xu, Haixia He, Bo Shen, Jiaqin Xu   +9 more
doaj   +2 more sources

Unmasking of a Heterozygous SLC12A3 Variant [PDF]

Kidney Medicine
Three months after starting 25 mg chlorthalidone, a patient was admitted to the medical intensive care unit to manage hypokalemia, metabolic alkalosis, hypo-osmolar hyponatremia, hyperglycemia, and 30 lb weight loss.
Chang Xu, Pietra Greenberg, Moses Bachan, Rajeev Rohatgi   +3 more
doaj   +2 more sources

The first compound heterozygous mutations in SLC12A3 and PDX1 genes: a unique presentation of Gitelman syndrome with distinct insulin resistance and familial diabetes insights

Frontiers in Endocrinology
BackgroundGitelman Syndrome (GS) patients frequently exhibit disrupted glucose metabolism, attributed to hypokalemia, hypomagnesemia and heightened aldosterone. This study delved into the genetic underpinnings linked to insulin resistance and diabetes in
Yaqi Yin, Liqin Li, Songyan Yu, Yu Xin, Lili Zhu, Xiao Hu, Kang Chen, Weijun Gu, Yiming Mu, Li Zang, Zhaohui Lyu   +10 more
doaj   +3 more sources

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, F. Zhang, D. Chen, Q. Lü, L. Tang, C. Yang, M. Lei, N. Tong   +7 more
doaj   +3 more sources