Gitelman’s Syndrome with Progressive Renal Failure
نویسندگان
چکیده
165 Received June 3, 2013; revised and accepted September 30, 2013. Published online October 25, 2013; doi: 10.1620/tjem.231.165. Correspondence: Jin Suk Han, M.D., Ph.D., Department of Internal Medicine, Seoul National University Hospital, 28 Yeongeon-Dong, Jongno-Gu, Seoul 110-744, Korea. e-mail: [email protected] Gitelman’s Syndrome with Vomiting Manifested by Severe Metabolic Alkalosis and Progressive Renal Insufficiency
منابع مشابه
A new tubular disorder with hypokalaemic metabolic alkalosis, severe hypermagnesuric hypomagnesaemia, hypercalciuria and cardiomyopathy.
Renal tubular magnesium loss in association with a defect in tubular chloride reabsorption has been reported in Bartter’s and Gitelman’s syndromes. Clinically, both syndromes are characterized by hypokalaemic metabolic alkalosis, renal salt wasting, hyperreninaemic hyperaldosteronism and altered renal prostaglandin metabolism [1]. In Bartter’s syndrome, hypomagnesaemia occurs in 20% of patients...
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Gitelman’s syndrome is a type of hereditary tubular disorder, which is caused by inactive mutations in the gene, which encodes thiazide sensitive sodium chloride cotransporter (SLC12A3) in the distal convoluted tubule. Biochemical characteristic is comparable to effect of thiazide diuretics: hypokalemia, hypomagnesaemia, hypocalciuria, hypokalemic alkalosis and blood pressure is normal or lower...
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1. Bettinelli A, Giovanni M, Bianchetti MG et al. Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndrome. J Pediatr 1992; 120: 38–43 2. Lin S-H, Cheng N-L, Hsu Y-J, Halperin ML. Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chlorid...
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