Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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The clinical manifestations, the short- and long-term outcomes of Bartter syndrome

Bartter 증후군의 임상 양상과 장단기 치료 결과

  • Park, Hye Won (Departments of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Lee, Joo Hoon (Departments of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Park, Young Seo (Departments of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine)
  • 박혜원 (울산대학교 의과대학 서울아산병원 소아과학교실) ;
  • 이주훈 (울산대학교 의과대학 서울아산병원 소아과학교실) ;
  • 박영서 (울산대학교 의과대학 서울아산병원 소아과학교실)
  • Received : 2007.09.08
  • Accepted : 2007.10.11
  • Published : 2007.12.15
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Abstract

Purpose : Bartter syndrome is a renal tubular defect in electrolyte transport characterized by hypokalemia, metabolic alkalosis and other clinical signs and symptoms. The aims of this study were to analyze the clinical manifestations and the short- and long-term outcomes of Bartter syndrome. Methods : We retrospectively reviewed clinical history, laboratory finding of blood and urine, renal ultrasonography, and hearing tests of five patients who were diagnosed and managed with Bartter syndrome at Asan Medical Center from April 1992 to May 2007. We also evaluated height and body weight periodically after institution of therapy. Results : All patients had poor oral intake, failure to thrive and polyuria. Three of them had maternal history of polyhydramnios and premature delivery. The mean age at diagnosis was 11.8 months. All children presented with hypokalemia, metabolic alkalosis, hyperreninemia. Their blood pressures were normal. One patient had nephrocalcinosis on renal ultrasonography and all of them had normal result in hearing tests. After treatment with indomethacin or other prostaglandin inhibitors and potassium supplementation,their clinical features improved with catch-up growth and improvement in the development during long-term follow-up. Conclusion : We emphasize that early diagnosis and proper treatment in patient with Bartter syndrome are related to better prognosis.

목 적 : Bartter 증후군은 신장 내 전해질 수송 장애로 인해 저칼륨혈증 및 대사성 알칼리증을 보이는 질환으로 이에 따른 여러 증상이 나타난다. 저자들은 Bartter 증후군의 임상 양상과 장단기 치료 결과에 대해 보고하고자 한다. 방 법 : Bartter 증후군으로 서울아산병원 소아과에서 치료하였던 다섯 명의 환아를 대상으로 진단시 병력, 혈액 검사 및 소변 검사, 신장 초음파, 청력 검사 등의 결과를 후향적으로 분석하고, 치료 후 변화와 성장 발달에 관해 조사하였다. 결 과 : 다섯 명의 환아 중 양수 과다증을 보인 3례는 모두 조산아로 출생하였다. 진단 당시 나이는 평균 11.8개월로 모든 예에서 식욕 부진, 성장 부진 및 다뇨의 증상을 보였다. 진단시 저칼륨혈증, 대사성 알칼리증 및 고레닌혈증을 보였고, 혈압은 모두 정상이었다. 신석회화는 1례에서 있었고, 청력은 모두 정상이었다. 인도메타신과 그 외의 프로스타글란딘 생성 억제제, 경구 칼륨 제제 등을 사용한 후 단기적으로 임상 증상이 호전되었고, 장기적으로 성장 발달이 정상화되었다. 결 론 : Bartter 증후군은 조기에 발견하여 적절한 치료를 하면 예후가 양호한 질환이므로 조기 진단이 중요하다고 판단된다.

Keywords

References

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