Gitelman Syndrome with Normal Serum Magnesium

Cheon, Younghee; Seo, Ji Hye; Cheong, Hae Il; Park, Yong Hoon

doi:2012.16.2.121

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.

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.

Key words: Gitelman syndrome | Thiazide-sensitive Na(+)-Cl(-)cotransporter (NCCT) | SLC12A3 gene | hypokalemia | normal serum magnesium