간질 발작으로 내원하여 진단된 Gitelman 증후군 1례
A Case of Gitelman Syndrome Presented with Epileptic Seizure
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초록
Gitelman 증후군과 Bartter 증후군은 모두 상염색체 열성으로 유전되는 신 세뇨관 질환으로 낮은 혈중 포타시움 농도, 대사성 알칼리혈증, 염분 소실, 정상 또는 낮은 혈압을 특징으로 한다. Gitelman 증후군은 thiazide-sensitive Na-Cl cotransporter(NCCT)의 유전자 돌연변이로 발생하며, 저마그네슘혈증과 저칼슘뇨증이 있는 것으로 Bartter 증후군과 구별된다. 환자들은 대개 증상이 없으며, 일정 기간 동안 근 약화, 테타니 등을 보이지만, 대부분의 경우 성인이 되어서 진단된다. 저자들은 11세된 여아에서 간질 발작의 악화로 내원하였다가 우연히 발견된 Gitelman 증후군 1례를 경험하였기에 보고하는 바이다. Gitelman 증후군의 진단은 대사성 알칼리혈증, 저칼륨혈증, 저마그네슘혈증, 저칼슘뇨증에 의해 근거하였다. 저자들은 또한 환자의 SLC12A3 유전자에서 이종접합체성 642Arg(CGC)>Cys(TGC) 변이와 동종접합체성 가성엑손을 확인하였다.
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(642CGC(Arg)>TGC(Cys)) and an abnormal splicing in the SLC12A3 gene encoding NCCT.
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