Results 41 to 50 of about 10,292,350 (166)

Clinical phenotypes and genetic analysis of 30 children with Gitelman syndrome [PDF]

Frontiers in Pediatrics
ObjectiveTo investigate the clinical phenotype, SLC12A3 gene spectrum, and genotype–phenotype correlation in Chinese children with Gitelman syndrome (GS).MethodsClinical and genetic data of 30 genetically confirmed pediatric GS cases (2015–2025) were ...
Wenyan Wang, Fei Zhao, Guixia Ding, Songming Huang, Xueqin Cheng   +4 more
doaj   +2 more sources

Simultaneous Mutations in the CLCNKB and SLC12A3 Genes in Two Siblings with Phenotypic Heterogeneity in Classic Bartter Syndrome [PDF]

Pediatric Research, 2005
Two siblings (brother and sister) with renal tubular hypokalemic alkalosis underwent clinical, biochemical and molecular investigations. Although the biochemical findings were similar (including hypokalemia, metabolic alkalosis, hyperreninemia, hyperaldosteronism and normal blood pressure), the clinical findings were different: the boy, who also ...
BETTINELLI A, BORSA N, SYRÉN ML, MATTIELLO C, COVIELLO, DOMENICO, EDEFONTI A, GIANI M, TRAVI M, TEDESCHI S.   +8 more
openaire   +5 more sources

Functional evaluation of novel compound heterozygous variants in SLC12A3 of Gitelman syndrome

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

Late diagnosis of Gitelman syndrome in an elderly patient: identification of a novel SLC12A3 pathogenic variant [PDF]

Brazilian Journal of Nephrology
Gitelman syndrome (GS) is an inherited salt-wasting, hypokalemic tubulopathy caused mainly by biallelic loss-of-function variants in the SLC12A3 gene. Despite being classically diagnosed in adolescence, delayed recognition may occur.
Lígia Ribeiro, Micael Pompermayer, Catarina Santos, Joana Coutinho   +3 more
doaj   +5 more sources

Three Novel Homozygous Mutations of the SLC12A3 Gene in a Gitelman Syndrome Patient. [PDF]

Int J Gen Med, 2021
Gitelman syndrome (GS) is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis. In this study, we investigated the clinical presentation and sequenced 26 exons of SLC12A3 gene in a patient with a clinical suspicion of GS.Clinical work-up including clinical examination, electrocardiography (ECG), chest X-ray, bone mineral ...
Zhong M, Zhai Z, Zhou X, Sun J, Chen H, Lu W, Lu W.   +6 more
europepmc   +6 more sources

Clinical and genetic features in 30 children with Gitelman syndrome [PDF]

BMC Nephrology
Background Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disorder caused by SLC12A3 gene variants. This study aimed to retrospectively analyze the clinical and genetic characteristics of pediatric GS patients and validate the ...
Qian-qian Sheng, Shu-min He, Gui-xia Ding   +2 more
doaj   +2 more sources

Research Analysis of SLC12A3 Gene Mutation and Molecular Mechanism in Gitelman Syndrome

罕见病研究
ObjectiveThis study aimed at conducting retrospective analysis of the clinical symptoms and genetic mutations in 20 children with Gitelman syndrome treated at the Affiliated Children′s Hospital of Nanjing Medical University from August 2015 to November ...
WANG Chunli, ZHENG Bixia, ZHOU Wei, CHE Ruochen, ZHAO Fei, ZHANG Aihua, DING Guixia   +6 more
doaj   +2 more sources

Role of SLC12A3 gene polymorphisms in diabetic nephropathy

AIP Conference Proceedings, 2022
Mohammed Neamah Alshimmari, S. Z. Nada, Hayder A Mohammed   +2 more
semanticscholar   +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

Reduced Expression of Magnesium Transport Proteins in the Distal Convoluted Tubule of Clcnkb-Deficient Mice May Explain Urinary Magnesium Wasting in Classical Bartter Syndrome. [PDF]

Acta Physiol (Oxf)
ABSTRACT Aim The kidney thick ascending limb (TAL) plays a key role in the transport of sodium, chloride, potassium, calcium, and magnesium. Bartter syndrome is a hypokalemic, salt‐losing tubulopathy caused by impaired TAL function. Pathogenic variants in SLC12A1 or KCNJ1 cause antenatal Bartter syndrome, and variants in CLCNKB result in classical ...
Kortenoeven MLA, Bogdanovic M, Appel I, Skjødt K, Fuchtbauer EM, Madsen K, Lund L, Chambrey R, Eladari D, Alexander RT, Hübner CA, Hennings JC, Dimke H.   +12 more
europepmc   +2 more sources