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Journal of the Korean Society of Pediatric Nephrology 2004;8(1): 68-73.
간질 발작으로 내원하여 진단된 Gitelman 증후군 1례
박지민, 김정태, 신재일, 김흥동, 김태영, 정해일, 이재승
1연세대학교 의과대학 소아과학교실 신장질환연구소
2연세대학교 의과대학 소아과학교실 신장질환연구소
3연세대학교 의과대학 소아과학교실 신장질환연구소
4연세대학교 의과대학 소아과학교실 신장질환연구소
5
6서울대학교 의과대학 소아과학교실
7연세대학교 의과대학 소아과학교실 신장질환연구소
A Case of Gitelman Syndrome Presented with Epileptic Seizure
Jee-Min Park, Jeong-Tae Kim, Jae-Il Shin, Heung-Dong Kim, Tae-Young Kim, Hae-Il Cheong, Jae-Seung Lee
1Department of Pediatrics, The Institute of Kidney Disease, Yonsei University College of Medicine
2Department of Pediatrics, The Institute of Kidney Disease, Yonsei University College of Medicine
3Department of Pediatrics, The Institute of Kidney Disease, Yonsei University College of Medicine
4Department of Pediatrics, The Institute of Kidney Disease, Yonsei University College of Medicine
5Seoul Clinical Genomics Inc.
6Department of Pediatrics, Seoul National University College of Medicine
7Department of Pediatrics, The Institute of Kidney Disease, Yonsei University College of Medicine
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ABSTRACT
Both Gitelman syndrome and Bartter syndrome are autosomal recessively inherited renal tubular disorders characterized by hypokalemic metabolic alkalosis, salt wasting and normal to low blood pressure. Gitelman syndrome is caused by mutations in the thiazide-sensitive Na-Cl cotransporter (NCCT) and distinguished from Bartter syndrome, which is associated with mutations of several genes, by the presence of hypomagnesemia and hypocalciuria. In most of the patients with Gitelman syndrome, the disease manifests with transient episodes of muscular weakness and tetany in the adult period, but, often, is asymptomatic. We report here an 11 years-old female with Gitelman syndrome who presented with aggravation of epileptic seizure. The diagnostic work-up showed typical clinical features of metabolic alkalosis, hypokalemia, hypomagnesemia and hypocalciuria. We also identified a heterozygote mutation($^{642}$CGC(Arg)>TGC(Cys)) and an abnormal splicing in the SLC12A3 gene encoding NCCT.
Key words: Gitelman syndrome | Epileptic seizure | SLC12A3 gene | Thiazide-sensitive Na-Cl cotransporter(NCCT) | Mutation
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