A Case of Bartter Syndrome with Muscle Weakness and Short Stature

근무력증과 왜소증을 동반한 Bartter syndrome 1례

Bartter syndrome is a rare disorder characterized by the association of hypokalemic hypochloremic metabolic alkalosis, hyperreninemia, hyperaldosteronemia, short stature and nephrocalcinosis. This disorder presents with hyperplasia of juxtaglomerular apparatus on renal biopsy. We experienced a case of late-onset Bartter syndrome with nephrocalcinosis in a 9-year-old boy, whose chief pictures were muscle weakness, short stature, persistent sterile pyuria and microscopic hematuria. We report this case with a brief review of related literatures.

저자들은 본원 소아과에 입원한 9년 3개월된 남아에서 만성병색소견, 심한 근무력증, 왜소증, 저칼륨성 대사성 알칼리혈증 및 신석회증과 좌측 요관의 확장을 보이는 영아기 이후 발병한 Bartter 증후군 1례를 경험하였기에 치료반응 및 임상경과를 문헌 고찰과 함께 보고하는 바이다.