Results 71 to 80 of about 6,819 (177)

Gitelman syndrome caused by a rare homozygous mutation in the SLC12A3 gene: A case report

World Journal of Clinical Cases, 2020
Gitelman syndrome (GS) is an unusual, autosomal recessive salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. It is caused by mutations in the solute carrier family 12 member 3 (SLC12A3) gene resulting in disordered function of the thiazide-sensitive NaCl co-transporter.
Yu, Ri-Zhen, Chen, Mao-Sheng
openaire   +2 more sources

Congenital Adrenal Hyperplasia (CAH) and Gitelman Syndrome (GS): Overlapping Symptoms in an Uncommon Association

Case Reports in Pediatrics, 2021
Background. Classical salt-wasting (SW) congenital adrenal hyperplasia (CAH) and Gitelman syndrome (GS) are two genetic conditions in which dyselectrolytemia may occur. No association between the two conditions has been previously described.
Valeria Calcaterra, Giulia Roberto, Anna La Rocca, Beatrice Andrenacci, Federico Rossi, Gian Vincenzo Zuccotti, Valentina Fabiano   +6 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Hypothesis: SLC12A3 polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance

, 2012
We report a 5-year-old boy with thiazide-resistant Bartter syndrome. This is highly unusual since thiazide hypersensitivity is a common diagnostic finding in Bartter syndrome patients.
Rupps, Rosemarie, Mammen, Cherry, Trnka, Peter, Boerkoel, Cornelius F.   +3 more
core   +1 more source

First case of Gitelman syndrome in a child in Macau

Global Pediatrics, 2023
The first case of a child with Gitelman syndrome (GS) in Macau was analyzed. The normotensive child presented with hypokalemia, hypomagnesemia, metabolic alkalosis, hyperreninemia and hypocalciuria. SLC12A3 gene mutation was detected.
Yan Chen, Cheong Tat Lou, Kuok Fong Wong, Cheng Lei   +3 more
doaj   +1 more source

Testosterone Exposure During Fetal Masculinization Programming Window Determines the Kidney Size in Adult Mice

The FASEB Journal, Volume 40, Issue 7, 15 April 2026.
Kidney size is sex‐dimorphic and regulated by androgens in adult humans and mice. Male mice lacking the main testosterone‐producing enzyme HSD17B3 had reduced testosterone during a short fetal time window, leading to reduced size of kidneys in adults, which were not responsive to high adult testosterone.
Arttu Junnila, Kalle T. Rytkönen, Guillermo Martinez‐Nieto, Mats Perk, Otto Mäkelä, Hao Li, Jenni Airaksinen, Ida Hyötyläinen, Oliver Mehtovuori, Asta Laiho, Claes Ohlsson, Laura L. Elo, Satu Kuure, Matti Poutanen, Petra Sipilä   +14 more
wiley   +1 more source

Mutational Analysis of SLC12A3 Gene in a Japanese General Population of Northern Japan [PDF]

Gitelman’s syndrome （GS） is considered to be a rare disorder. To assess the prevalence of GS in the Japanese general population and the relationships between mutations of related genes and blood pressure, we performed mutational analysis of the SLC12A3 ...
Sugimoto, Kazuhiro, Nakaji, Shigeyuki, Yasujima, Minoru, Tsutaya, Shoji   +3 more
core   +1 more source

Cellular microenvironment of erythropoietin‐producing cells in hypoxic and injured mouse kidneys

Experimental Physiology, Volume 111, Issue 4, Page 2236-2267, 1 April 2026.
Abstract The main sources of circulating erythropoietin (Epo) in the adult are kidney Norn cells, a recently identified interstitial cell type capable of becoming renal Epo‐producing (REP) cells following a local decrease in tissue oxygenation. REP cells are restricted to small clusters in the corticomedullary border region, suggesting that their ...
Olga M. Lempke, Thomas Knöpfel, Stellor Nlandu Khodo, Roland H. Wenger   +3 more
wiley   +1 more source

Icaritin Ameliorates Cisplatin‐Induced Mitochondrial Metabolic Dysfunction‐Associated Nephrotoxicity and Synergistically Potentiates Its Antitumor Efficacy

Advanced Science, Volume 13, Issue 7, 3 February 2026.
In this study, scRNA‐seq and chemoproteomics are integrated to characterize CDDP‐bound proteins at single‐cell resolution in tumor‐bearing mice. Additionally, the research demonstrates that ICA alleviates CDDP‐induced nephrotoxicity while enhancing its chemotherapeutic efficacy.
Piao Luo, Junhui Chen, Yehai An, Kun Meng, Wei Zhou, Wenhui Li, Jing Liu, Wentong Zhao, Weiyi He, Ting Cao, Jingnan Huang, Sha Feng, Shiguang Yang, Hongling Hu, Jiaxian Liao, Hengkai He, Mingjing Hao, Qian Zhang, Jigang Wang, Yue Gao   +19 more
wiley   +1 more source

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

Clinical Case Reports, Volume 14, Issue 2, February 2026.
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.
Solmaz Hasani, Alireza Rezapanah, Tooraj Zandbaf, Mohammad Javad Ghamari, Narges Mesbah   +4 more
wiley   +1 more source