J Korean Soc Pediatr Nephrol > Volume 16(2); 2012 > Article
J Korean Soc Pediatr Nephrol 2012;16(2): 121-125. doi: https://doi.org/10.3339/jkspn.2012.16.2.121
정상 마그네슘혈증의 Gitelman 증후군 1례
전영희, 서지혜, 정해일, 박용훈
1영남대학교 의과대학 소아과학교실
2영남대학교 의과대학 소아과학교실
3서울대학교 의과대학 소아과학교실
4영남대학교 의과대학 소아과학교실
Gitelman Syndrome with Normal Serum Magnesium
Younghee Cheon, Ji Hye Seo, Hae Il Cheong, Yong Hoon Park
1Department of Pediatrics, College of Medicine, Yeungnam University
2Department of Pediatrics, College of Medicine, Yeungnam University
3Department of Pediatrics, Seoul National University Children's Hospital
4Department of Pediatrics, College of Medicine, Yeungnam University
Received: September 13, 2012;  Revised: September 25, 2012.  Accepted: October 4, 2012.
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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.
Key words: Gitelman syndrome | Thiazide-sensitive $Na^+-Cl^-$cotransporter (NCCT) | SLC12A3 gene | hypokalemia | normal serum magnesium

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