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http://dx.doi.org/10.3339/jkspn.2012.16.2.121

Gitelman Syndrome with Normal Serum Magnesium  

Cheon, Younghee (Department of Pediatrics, College of Medicine, Yeungnam University)
Seo, Ji Hye (Department of Pediatrics, College of Medicine, Yeungnam University)
Cheong, Hae Il (Department of Pediatrics, Seoul National University Children's Hospital)
Park, Yong Hoon (Department of Pediatrics, College of Medicine, Yeungnam University)
Publication Information
Childhood Kidney Diseases / v.16, no.2, 2012 , pp. 121-125 More about this Journal
Abstract
Gitelman syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemic metabolic alkalosis, and it is distinguished from Batter syndrome by hypomagnesemia and hypocalciuria. This disorder is caused by mutation in SLC12A3 gene which encodes thiazide-sensitive $Na^+-Cl^-$cotransporter (NCCT) which is expressed in the apical membrane of cells, lining distal convoluted tubule. A 8-year old boy who presented with Rolandic epilepsy, and horseshoe kidney accidentally showed clinical features of metabolic alkalosis, hypokalemia, hypocalciuria without hypomagnesemia. So we identified a heterozygote mutation and an abnormal splicing in the SLC12A3 gene, encoding NCCT. The mutation was detected in the exon 15 and 22 of SLC12A3 gene.
Keywords
Gitelman syndrome; Thiazide-sensitive $Na^+-Cl^-$cotransporter (NCCT); SLC12A3 gene; hypokalemia; normal serum magnesium;
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