Childhood Kidney Diseases

Korean Society of Pediatric Nephrology (대한소아신장학회)
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Gitelman Syndrome with Normal Serum Magnesium

정상 마그네슘혈증의 Gitelman 증후군 1례

  • 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)
  • 전영희 (영남대학교 의과대학 소아과학교실) ;
  • 서지혜 (영남대학교 의과대학 소아과학교실) ;
  • 정해일 (서울대학교 의과대학 소아과학교실) ;
  • 박용훈 (영남대학교 의과대학 소아과학교실)
  • Received : 2012.09.13
  • Accepted : 2012.10.04
  • Published : 2012.10.31
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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.

Gitelman 증후군은 저칼륨혈증, 대사성 알칼리혈증, 고레닌혈증, 고알도스테론혈증, 저마그네슘혈증, 저칼슘뇨증, 고마그네슘뇨증과 정상 혈압을 특징으로 하는 상염색체 열성 유전성 세뇨관 질환이며 SLC12A3 유전자 돌연변이로 인해 원위 곱슬 세뇨관의 NCCT의 결함을 유발하여 초래된다. 환아는 Rolandic 간질 및 마제신으로 진단받고 본원 외래에서 주기적으로 진료받던 환아로 혈액검사에서 저칼륨혈증 및 대사성 알칼리혈증이 지속되었지만 정상 마그네슘혈증이 관찰되어 유전자검사를 통해 SLC12A3 유전자 돌연변이를 확인하였고 Gitelman 증후군으로 진단한 증례를 경험하였기에 보고하는 바이다.

Keywords

References

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