Gitelman's syndrome with persistent hypokalemia - don't forget licorice, alcohol, lemon juice, iced tea and salt depletion: a case report [PDF]
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 +6 more sources
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
Concurrence of thyrotoxicosis and Gitelman’s syndrome-associated hypokalemia-induced periodic paralysis [PDF]
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
Unique genetic presentation of Gitelman syndrome in a Hispanic patient: Case report [PDF]
SAGE Open Medical Case ReportsGitelman’s syndrome, also known as, familial hypokalemia–hypomagnesemia, is a renal tubulopathy responsible for salt wasting resulting in, hypomagnesemia, hypocalciuria, and secondary activation of the renin–angiotensin–aldosterone system, responsible ...
Aldo Arce +3 more
doaj +2 more sources
Gitelman’s syndrome complicated by mild renal insufficiency and high anion gap acidosis; a rare presentation in a young female [PDF]
Journal of Nephropathology, 2015 Background: Gitelman’s syndrome (GS) is a rare autosomal recessive renal tubular disorder that is characterized by episodic clinical manifestations and persistent biochemical abnormalities.
Nazrul Hassan Jafry +2 more
doaj +2 more sources
Thyrotoxic periodic paralysis - a retrospective study from Southern India [PDF]
European Thyroid JournalObjective: Thyrotoxic periodic paralysis is a rare manifestation of thyrotoxicosis. Here, we describe the clinical and biochemical features and treatment outcomes of this disorder.
Jinson Paul +8 more
doaj +2 more sources
Acquired Bartter Syndrome in Primary Sjögren Syndrome
Saudi Journal of Kidney Diseases and Transplantation, 2020 Renal tubular involvement in Sjögren's syndrome (SS) often described with renal tubular acidosis, nephrogenic diabetes insipidus, or rarely with Fanconi syndrome.
Aya Fraj +6 more
doaj +1 more source
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 +11 more
doaj +1 more source
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 +7 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