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Case report: Two novel compound heterozygous variant of SLC12A3 gene in a gitelman syndrome family and literature review. [PDF]
Front GenetJi X, Zhao N, Liu H, Wu Y, Liu L.
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Bartter Syndrome and Gitelman Syndrome
Pediatric Clinics of North America, 2019Bartter and Gitelman syndromes are conditions characterized by renal salt-wasting. Clinical presentations range from severe antenatal disease to asymptomatic with incidental diagnosis. Hypokalemic hypochloremic metabolic alkalosis is the common feature. Bartter variants may be associated with polyuria and weakness.
Rosanna, Fulchiero, Patricia, Seo-Mayer
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Understanding Bartter syndrome and Gitelman syndrome
World Journal of Pediatrics, 2012We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome.Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011.The clinical features common to both conditions and those which ...
Oliver T, Fremont, James C M, Chan
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Advances in Chronic Kidney Disease, 2006
In the past decade our understanding of the etiology and pathophysiology of Gitelman syndrome, an autosomal recessive salt-losing tubular disorder with secondary hypokalemia, has increased considerably through the achievements of molecular genetics and cell physiology.
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In the past decade our understanding of the etiology and pathophysiology of Gitelman syndrome, an autosomal recessive salt-losing tubular disorder with secondary hypokalemia, has increased considerably through the achievements of molecular genetics and cell physiology.
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Nephrologie & therapeutique, 2021
Bartter-Gitelman syndromes are rare inherited autosomal recessive salt-losing tubulopathies characterized by severe and chronic hypokalemia associated with metabolic alkalosis and secondary hyperaldosteronism. Bartter syndrome results from a furosemide-like defect in sodium reabsorption in the Henle's loop leading to hypercalciuria and defect in ...
Anne, Blanchard +3 more
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Bartter-Gitelman syndromes are rare inherited autosomal recessive salt-losing tubulopathies characterized by severe and chronic hypokalemia associated with metabolic alkalosis and secondary hyperaldosteronism. Bartter syndrome results from a furosemide-like defect in sodium reabsorption in the Henle's loop leading to hypercalciuria and defect in ...
Anne, Blanchard +3 more
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Bartter and Gitelman Syndromes
Advances in Pediatrics, 2000Since the initial description in the 1960s of patients with seemingly inherited disorders characterized by hypokalemia and metabolic alkalosis, the pathophysiologic processes underlying Bartter and Gitelman syndromes have generated tremendous study and speculation.
S J, Schurman, L R, Shoemaker
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Bartter's and Gitelman's syndrome
Current Opinion in Pediatrics, 2017Purpose of review The clinical presentations of Bartter's syndrome and Gitelman's syndrome will be reviewed including two most recently described hypokalemic salt-losing tubulopathies. By taking the quite heterogeneous presentations and the apparently different pathophysiologies as the basis, the applicability of the ...
Hannsjörg W, Seyberth +2 more
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The Journal of the Association of Physicians of India, 2009
We report a case of 30 year old male who presented with alleged history of consumption of organophosphorus compound. During stay in hospital, he was found to be persistently hypokalemic and low in magnesium. Subsequently with detailed clinical and laboratory evaluation, he was diagnosed to be having Gitelman's syndrome.
D R, Mhasde +5 more
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We report a case of 30 year old male who presented with alleged history of consumption of organophosphorus compound. During stay in hospital, he was found to be persistently hypokalemic and low in magnesium. Subsequently with detailed clinical and laboratory evaluation, he was diagnosed to be having Gitelman's syndrome.
D R, Mhasde +5 more
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