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간질 발작으로 내원하여 진단된 Gitelman 증후군 1례

Other Titles
 A Case of Gitelman Syndrome Presented with Epileptic Seizure 
 박지민  ;  김정태  ;  이재승  ;  정해일  ;  김태영  ;  김흥동  ;  신재일 
 Journal of the Korean Society of Pediatric Nephrology (대한소아신장학회지), Vol.8(1) : 68-73, 2004 
Journal Title
 Journal of the Korean Society of Pediatric Nephrology (대한소아신장학회지) 
Issue Date
Gitelman syndrome ; Epileptic seizure ; SLC12A3 gene ; Thiazide-senstive Na-CL cotransporter(NCCT) ; Mutation
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.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Heung Dong(김흥동) ORCID logo https://orcid.org/0000-0002-8031-7336
Park, Jee Min(박지민)
Lee, Jae Seung(이재승)
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