Clinical and diagnostic features of Bartter and Gitelman syndromes [PDF]
, 2017 Background: Bartter and Gitelman syndromes are autosomal recessive disorders of renal tubular salt handling. Due to their rarity, limited long-term data are available to inform prognosis and management.
Ashton, E +8 more
core +1 more source
Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. [PDF]
, 2019 BACKGROUND: Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis.
A Bettinelli +49 more
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EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10 [PDF]
, 2016 EAST syndrome is a recently described autosomal recessive disorder secondary to mutations in KCNJ10 (Kir4.1), a gene encoding a potassium channel expressed in the brain, eye, ear and kidney.
Abdelhadi, O +4 more
core +1 more source
Comorbid Gitelman Syndrome and Schizophrenia: A Case Report [PDF]
Düşünen Adam Psikiyatri ve Nörolojik Bilimler Dergisi, 2006 In this report, a 28 year old schizophrenic patient who had Gitelman syndrome comorbidity is presented and the differential diagnosis is discussed. Gitelman syndrome is, defined as an autosomal recessive disorder featuring hypokalemic metabolic alkalosis,
Huriye Gümüş +2 more
doaj
Gitelman syndrome associated with chondrocalcinosis: description of two cases
Reumatismo, 2011 Gitelman syndrome is a rare inherited tubulopathy, characterized by hypomagnesemia, hypokalemia, metabolic alkalosis, hypocalciuria and hyperreninemic hyperaldosteronism.
E. Filippucci +7 more
doaj +1 more source
Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2020 Background Hypokalaemic paralysis is a rare group of disorders with concomitant muscle weakness and hypokalaemia. Thyrotoxicosis is a recognized and a common cause for hypokalaemic paralysis among Asians, in which intracellular shift of potassium is ...
Chandrika Jayakanthi subasinghe +6 more
doaj +1 more source
Cryo-EM structure of the potassium-chloride cotransporter KCC4 in lipid nanodiscs. [PDF]
, 2020 Cation-chloride-cotransporters (CCCs) catalyze transport of Cl- with K+ and/or Na+across cellular membranes. CCCs play roles in cellular volume regulation, neural development and function, audition, regulation of blood pressure, and renal function.
Brohawn, Stephen Graf +2 more
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A Case of Gitelman Syndrome; Incidentally Diagnosed in Elderly
Bezmiâlem Science, 2022 Gitelman syndrome is an autosomal recessive renal tubular disease that is followed by symptoms, such as fatigue, muscle weakness, tetany, polydipsia, and nocturia.
Selma KARAAHMETOĞLU +1 more
doaj +1 more source
Pregnancy with Gitelman's syndrome [PDF]
Obstetric Medicine, 2011 Gitelman's syndrome is a rare genetic disease associated with chronic hypokalaemia, hypomagnesaemia and hypocalciuria. It requires lifelong supplementation with potassium and magnesium. Pregnancy management can be difficult and there are few published reports. Our case adds to the literature and illustrates some of the potential problems.
F, Raffi +3 more
openaire +2 more sources
HELLP syndrome in a pregnant patient with Gitelman syndrome
Kidney Research and Clinical Practice, 2017 Gitelman syndrome is characterized by hypokalemia, metabolic alkalosis, hypocalciuria, and hypomagnesemia. The clinical course of Gitelman syndrome in pregnant women remains unclear, but it is thought to be benign. We report here the first Korean case of
Minhyeok Lee +7 more
doaj +1 more source