Results 11 to 20 of about 1,221,013 (139)
Hyperemesis Gravidarum in Undiagnosed Gitelman’s Syndrome [PDF]
Case Reports in Medicine, 2016 Introduction. Gitelman’s syndrome (GS) is an autosomal recessive inherited defect in the thiazide-sensitive sodium-chloride cotransporter (NCCT) in the renal distal convoluted tubule.
Maria Czarina Acelajado +2 more
doaj +2 more sources
Calcium Unresponsive Hypocalcemic Tetany: Gitelman Syndrome with Hypocalcemia [PDF]
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 +2 more
doaj +2 more sources
Pediatric Reports, 2012 A 16-year-old Japanese boy with a history of truancy had been treated at a psychiatric clinic. When the patient was referred to us for hypokalemia-associated paralysis, the diagnosis of thyrotoxic hypokalemic periodic paralysis was made, common in Asian ...
Shinsaku Imashuku +4 more
doaj +2 more sources
Gitelman’s syndrome presented with tetany: a case report
IMC Journal of Medical Science, 2012 Gitelman’s syndrome is an autosomal recessive disorder caused by a defect of the thiazide-sensitive sodium chloride co-transporter at the distal tubule, characterized by hypomagnesemia, hypokalemic alkalosis and hypocalciuria. We report a case of Gitlman’
Md. Zahid Alam +5 more
doaj +1 more source
Successful living kidney donation from a patient with a Gitelman's syndrome. [PDF]
BMJ Case Rep, 2022 Darrat M +5 more
europepmc +2 more sources
Two unusual cases of Gitelman's syndrome with a complex inheritance: how the phenotype can help interpret the genotype: lesson for the clinical nephrologist. [PDF]
J Nephrol, 2021 Bartter’s syndrome (BS) and Gitelman’s syndrome (GS) are autosomal recessive disorders with overlapping features, caused by biallelic variants in six genes encoding proteins involved in renal electrolyte homeostasis in different districts of the nephron.
Calò LA +3 more
europepmc +2 more sources
The Dietary Approach to the Treatment of the Rare Genetic Tubulopathies Gitelman's and Bartter's Syndromes. [PDF]
Nutrients, 2021 Gitelman’s (GS) and Bartter’s (BS) syndromes are rare, inherited autosomal recessive tubulopathies characterized by hypokalemia, metabolic alkalosis, renal sodium, chloride, and potassium and magnesium-wasting.
Francini F +6 more
europepmc +2 more sources
Reumatismo, 2016 Gitelman’s syndrome is a rare autosomal-recessive tubular disorder characterized by hypomagnesemia and hypocalciuria associated to hypokalemia. The clinical spectrum is wide and usually characterized by chronic fatigue, cramps, muscle weakness and ...
A. Zabotti +5 more
doaj +1 more source
GITELMAN syndrome first case report in Peru
Revista de la Facultad de Medicina Humana, 2018 Introduction: Gitelman's syndrome is an infrequent tubulopathy, transmitted by autosomal recessive inheritance due to mutations of the SLC12A3 gene, which is responsible for encoding the cotransporter Na Cl synthesis of the distal convoluted tubule. This
Wendy Chipa +4 more
doaj +1 more source
Journal of Medical Case Reports, 2011 Introduction Chronic hypokalemia is the main finding in patients with Gitelman's syndrome. Exogenous factors can trigger deterioration of the patient's condition and provoke clinical symptoms.
Schmid Christoph +3 more
doaj +1 more source