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Case report - Gitelman's syndrome
Gitelman's syndrome is primarily renal tubular hypokalemic metabolic alkalosis with hypocalciuria and magnesium deficiency, a benign disorder, inherited as autosomal recessive ...
Mukta N. Chowta, Nithyananda K. Chowta
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ABSTRACT Gitelman syndrome (GS) is a rare autosomal recessive tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. A 27‐year‐old woman presented with a witnessed syncopal episode, progressive weakness, and nausea.
Iyassu S. Melkie +5 more
wiley +1 more source
Gitelman's syndrome: towards genotype-phenotype correlations?
Contains fulltext : 51735.pdf (Publisher’s version ) (Open Access)Gitelman's syndrome (GS) is a salt-losing tubulopathy characterized by hypokalemic alkalosis with hypomagnesemia and hypocalciuria.
Bindels, René J +7 more
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Introduction: miR-155 and miR-103 are multifunctional miRNAs known to be involved in Angiotensin II (Ang II) signaling linked with hypertension and cardiovascular remodeling, although their role is controversial and not completely clarified ...
Martina Cacciapuoti +5 more
doaj +1 more source
Gitelman and Bartter Syndrome in a Patient With Morbid Obesity: A Case Report and Literature Review
ABSTRACT We present a case study of a 34‐year‐old man with morbid obesity and a suspected Bartter–Gitelman spectrum tubulopathy (without genetic confirmation), weighing 135 kg, and with a BMI of 42.5 kg/m2, who was referred to the metabolic and bariatric surgery department due to morbid obesity to address abnormal electrolyte levels.
Solmaz Hasani +4 more
wiley +1 more source
Divalent cation transport by the distal nephron: insights from Bartter's and Gitelman's syndromes
Elucidation of the gene defects responsible for many disorders of renal fluid and electrolyte homeostasis has provided new insights into normal and abnormal physiology. Identifying the causes of Gitelman's and Bartter's syndromes has greatly enhanced our
David H. Ellison
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A Rare Case of Bartter Syndrome Type 3 Diagnosed in Elderly Age
Bartter syndrome (BS) type 3 typically presents in childhood and is caused by defects in NaCl transporters of the thick ascending limb of the loop of Henle. We report a 66‐year‐old woman with asymptomatic but severe hypokalemia (2.0 mmol/L), metabolic alkalosis, and hyperreninemic hyperaldosteronism.
Tsuyoshi Okura +6 more
wiley +1 more source
Hypokalemic Paralysis due to Primary Hyperaldosteronism Simulating Gitelman's Syndrome
Some diseases, such as Gitelman's syndrome, Bartter's syndrome, and primary hyperaldosteronism (Conn's syndrome), may bear some similar clinical and laboratory findings.
ÜSKÜDAR CANSU, DÖNDÜ +3 more
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Renal tubular function in children and adolescents with Gitelnian's syndrome, the hypocalciuric variant of Bartter's syndrome [PDF]
Renal tubular function was studied in 14 patients with Gitelman's syndrome and 14 control subjects. Apart from the biochemical hallmarks of Gitelman's syndrome, namely alkalaemia, hyperbi carbonataemia, hypokalaemia, hypomagnesaemia (with increased ...
Metta, M.G. +5 more
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