Results 21 to 30 of about 725 (179)

Clinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome

Frontiers in Pediatrics, 2021
Gitelman syndrome (GS, OMIM 263800) is a genetic congenital tubulopathy associated with salt loss, which is characterized by hypokalemic metabolic toxicity, hypocalciuria, and hypomagnesemia.
Lingxia Zhang, Ke Huang, Shugang Wang, Haidong Fu, Jingjing Wang, Huijun Shen, Zhihong Lu, Junyi Chen, Yu Bao, Chunyue Feng, Guanping Dong, Jianhua Mao   +11 more
doaj   +1 more source

Generation of a human induced pluripotent stem cell line (CMCi002-A) from a patient with Gitelman’s syndrome

Stem Cell Research, 2020
We established a human induced pluripotent stem cells (hiPSC) line (CMCi002-A) from peripheral blood mononuclear cells (PBMCs) of 29-year-old male with Gitelman’s syndrome (GIT) caused by the mutation of solute carrier family 12 member 3 (SLC12A3) gene ...
Sun Woo Lim, Yoo Jin Shin, Sheng Cui, Eun Jeong Ko, Kang In Lee, Jae Young Lee, Byung Ha Chung, Chul Woo Yang   +7 more
doaj   +1 more source

An acquired Bartter syndrome with secondary Sjögren syndrome [PDF]

, 2023
Renal tubular involvement in Sjögren's syndrome (SS) often described with renal tubular acidosis, nephrogenic diabetes insipidus, or rarely with Fanconi syndrome.
Khade, Shamisha S., Maindarkar, Parth G., Naik, Manjiri R., Patel, Shubham M.   +3 more
core   +2 more sources

Persistent hypokalemia due to a rare mutation in gitelman's syndrome

Saudi Journal of Kidney Diseases and Transplantation, 2020
Chronic hypokalemia is the main finding in patients with Gitelman’s syndrome (GS). GS, a variant of Bartter’s syndrome, is an autosomal recessive renal disorder characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria.
Dimitrios Mamalis, Theodora Stratigou, Natalia G Vallianou, Georgios G Ioannidis, Theofanis Apostolou   +4 more
doaj   +1 more source

Renal magnesium handling: New insights in understanding old problems [PDF]

, 1997
Many sharp-eyed readers have pointed out to us that in the photo next to the article about yams in Ghana (Spore 87, June 2000, page 8), the woman had put all her cassava in one basket, and not the yams she planned to use. Point taken.
Gary A. Quamme, Quamme, de Rouffignac, de Rouffignac, le Grimellec, de Rouffignac, le Grimellec, Quamme, Quamme, Quamme, Poujeol, Wong, Leliévre-Pegorier, Simon, Simon, Simon, Mandon, Di Stefano, Shareghi, Wittner, Di Stefano, Di Stefano, Mandon, Wittner, Wittner, Dai, Bailly, Elalouf, Elalouf, Quamme, Quamme, Dai, Dai, Quamme, Li, Li, Quamme, Pizzonia, Friedman, Shafik, Günther, Auger, Bailly, Bailly, Elalouf, Poujeol, de Rouffignac, Wittner, Bailly, Reeves, Stanton, Work, Bailly, Chabardés, Morel, Morel, Dai, Greger, Reeves, Suki, Massry, Massry, Suki, Friedman, Bouhtiauy, Hilal, Rossier, Jackson, Rajerison, Doucet, El Mernissi, De Rouffignac, Ahloulay, Di Stefano, Quamme, Brown, Brown, Riccardi, Riccardi, Hebert, Wang, Ye, Sands, Massry, Rude, Bapty, Bapty, Estep, Pollak, Attie, Law, Kristiansen, Marx, Pollak, Pollak, Ho, Pearce, Dunn, Shils, Al-Ghamdi, Di Stefano, Quamme, Gullestad, Rude, Elin, Niemela, Quamme, Hedemann, Praga, Challa, Geven, Griffin, Iwata, Walder, Geven, Bundy, Clauw, Nicholson, Prebble, Rodriguez-Soriano, Torrolbo, Richard, Ritchie, Douban, Devane, Friedman, Murdoch, Wester, Hollifield, Gesek, Stanton, Kroenke, Paolisso, Saito, Siegel, Duarte, Lemann, Wu, Lennon, Peraino, Shapiro, Levin, Wong, Dai, Pietrobon, Chen, Mather, McNair, Tosiello, Eknoyan, Gutsche, Luke, Luke, Bartter, Gitelman, Cushner, Stein, Simon, Scoble, Betthinelli, Zarlaga Larronndo, Colussi, Coburn, Domingues, Kreusser, Wong, Dai, Crook, Krishna   +168 more
core   +1 more source

A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry

Nefrología (English Edition), 2017
Background: Gitelman's syndrome (GS) is an autosomal recessive disorder caused by mutations in the SLC12A3 gene. GS is characterized by hypokalaemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Most of the reported patients of Roma ancestry are
Helena Gil-Peña, Eliecer Coto, Fernando Santos, Mar Espino, Jose Mª Cea Crespo, Giannis Chantzopoulos, Filadelfia Komianou, Juan Gómez, Belén Alonso, Sara Iglesias, Cyrielle Treard, Rosa Vargas-Poussou   +11 more
doaj   +3 more sources

Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis [PDF]

, 2011
Bartter syndrome (BS) is a clinically and genetically heterogeneous inherited renal tube disorder characterized by renal salt wasting, hypokalemic metabolic alkalosis and normotensive hyperreninemic hyperaldosteronism.
Se Eun Lee, Kyoung Hee Han, Yun Hye Jung, Hyun Kyung Lee, Hee Gyung Kang, Kyung Chul Moon, Il Soo Ha, Yong Choi, Hae Il Cheong   +8 more
core   +1 more source

Renal localization and regulation by dietary phosphate of the MCT14 orphan transporter [PDF]

, 2017
MCT14 is an orphan transporter belonging to the SLC16 transporter family mediating the transport of monocarboxylates, aromatic amino acids, creatine, and thyroid hormones. The expression, tissue localization, regulation, and function of MCT14 are unknown.
Atanassoff, Alexander, Biber, Jürg, Hernando, Nati, Knöpfel, Thomas, Wagner, Carsten A   +4 more
core   +1 more source

Calcium Unresponsive Hypocalcemic Tetany: Gitelman Syndrome with Hypocalcemia

Case Reports in Medicine, 2013
Introduction. Gitelman’s syndrome (GS) is autosomal recessive renal tubular disorder characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and hyperreninemic hyperaldosteronism.
Madhav Desai, Praveen Kumar Kolla, P. L. Venkata Pakki Reddy   +2 more
doaj   +1 more source

A case of paraplegia due to limb girdle muscular dystrophy with coexisting gitelman’s syndrome

Asian Journal of Medical Sciences, 2016
Muscular dystrophies are a rare group of disorders affecting the skeletal muscles, which are progressive, hereditary and degenerative. A sudden worsening of the condition should raise the possibility of hypokalemia, followed by its evaluation and ...
Robin George Manappallil
doaj   +1 more source