Results 41 to 50 of about 7,281,051 (191)

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

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

Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene. [PDF]

Case Rep Pediatr, 2014
An 8-year-old Japanese boy presented with a generalized convulsion. He had hypokalemia (serum K 2.4 mEq/L), hypomagnesemia, and metabolic alkalosis (BE 5.7 mmol/L). In addition, his plasma renin activity was elevated.
Makino S, Tajima T, Shinozuka J, Ikumi A, Awaguni H, Tanaka S, Maruyama R, Imashuku S.   +7 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

HIV-1 Vpr suppresses expression of the thiazide-sensitive sodium chloride co-transporter in the distal convoluted tubule.

PLoS ONE, 2022
HIV-associated nephropathy (HIVAN) impairs functions of both glomeruli and tubules. Attention has been previously focused on the HIVAN glomerulopathy. Tubular injury has drawn increased attention because sodium wasting is common in hospitalized HIV/AIDS ...
Shashi Shrivastav, Hewang Lee, Koji Okamoto, Huiyan Lu, Teruhiko Yoshida, Khun Zaw Latt, Hidefumi Wakashin, James L T Dalgleish, Erik H Koritzinsky, Peng Xu, Laureano D Asico, Joon-Yong Chung, Stephen Hewitt, John J Gildea, Robin A Felder, Pedro A Jose, Avi Z Rosenberg, Mark A Knepper, Tomoshige Kino, Jeffrey B Kopp   +19 more
doaj   +2 more sources

Novel Compound Heterozygous Mutations of the SLC12A3 Gene in Gitelman Syndrome with Growth Hormone Deficiency and Hypothyroidism

Iranian Journal of Pediatrics, 2023
Introduction: Gitelman syndrome (GS) is an inherited kidney disease that causes an imbalance of charged ions in the body. SLC12A3 mutation is the predominant cause of GS. There are different known and unknown pathogenic mutations in SLC12A3.
Yaping Ma, Zhuangjian Xu
semanticscholar   +1 more source

Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome

npj Genomic Medicine, 2021
Recurrent mutations in the SLC12A3 gene responsible for autosomal recessive Gitelman syndrome (GS) are frequently reported, but the exact prevalence is unknown.
Ming-Tso Yan, Sung-Sen Yang, Min-Hua Tseng, Chih-Jen Cheng, Jeng-Daw Tsai, Chih-Chien Sung, Yu-Juei Hsu, Shih-Hua Lin   +7 more
doaj   +1 more source

A Deep Intronic Mutation in the SLC12A3 Gene Leads to Gitelman Syndrome [PDF]

Pediatric Research, 2009
Many mutations have been detected in the SLC12A3 gene of Gitelman syndrome (GS, OMIM 263800) patients. In previous studies, only one mutant allele was detected in approximately 20 to 41% of patients with GS; however, the exact reason for the nonidentification has not been established.
Kandai, Nozu, Kazumoto, Iijima, Yoshimi, Nozu, Ei, Ikegami, Takehide, Imai, Xue Jun, Fu, Hiroshi, Kaito, Koichi, Nakanishi, Norishige, Yoshikawa, Masafumi, Matsuo   +9 more
openaire   +2 more sources

Genetic variants of SLC12A3 modulate serum lipid profiles in a group of Mongolian pedigree population

Lipids in Health and Disease, 2018
Background The serum lipid profile, including LDL-C level, is associated with hypertension which is the major cause of cerebrovascular disease (CVD) amounting 30% of global death rate.
Caiyan An, Junqing Liang, Kejin Zhang, Xiulan Su   +3 more
doaj   +1 more source