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신석회증을 동반한 성인에서의 Bartter 증후군 1예

A Case of Adult onset Bartter Syndrome with Nephrocalcinosis

고신대학교 의과대학 학술지 2014년 29권 1호 p.75 ~ 79
박민규, 임태원, 오희택, 송승언, 허동, 임학,
소속 상세정보
박민규 ( Park Min-Gyu ) - 대동병원 내과
임태원 ( Lim Tae-Won ) - 대동병원 내과
오희택 ( Oh Hee-Taek ) - 대동병원 내과
송승언 ( Song Seung-Un ) - 대동병원 내과
허동 ( Heo Dong ) - 대동병원 내과
임학 ( Rim Hark ) - 고신대학교 의과대학 내과학교실

Abstract


Bartter syndrome is a renal tubular defect in electrolyte transport characterized by hypokalemia, metabolic alkalosis, hyperreninemia, hyperaldosteronism, normal blood pressure, and other clinical symptoms. As a clinical and genetical heterogeneous disorder, this syndrome can be classified into two clinical variants, antenatal Bartter syndrome and classic Bartter syndrome according to the onset age. Nephrocalcinosis is common in antenatal Bartter syndrome, but is rare in classic Bartter syndrome. It can also be classified into five genetic subtypes by the underlying mutant gene, all of which are expressed in the tubular epithelial cells of the thick ascending limb of the loop of Henle. Patients with Bartter syndrome type 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. We have experienced a case of Bartter syndrome with nephrocalcinosis in a 42-year-old woman diagnosed by biochemical and radiologic studies. We had successful response with potassium chloride and spironolactone.

키워드

Bartter Syndrome; Hypokalemia; Metabolic Alkalosis; Nephrocalcinosis

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