Pediatric Gastroenterology, Hepatology & Nutrition

The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition (대한소아소화기영양학회)
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Tetany in a 13-Year-Old Girl with Wilson's Disease

테타니가 발생한 윌슨병 1예

  • Ra, Chae-Ik (Department of Pediatrics, Yonsei University College of Medicine) ;
  • Kim, Sang-Yong (Department of Pediatrics, Yonsei University College of Medicine) ;
  • Koh, Hong (Department of Pediatrics, Yonsei University College of Medicine)
  • 라채익 (연세대학교 의과대학 소아과학교실, 세브란스 어린이병원) ;
  • 김상용 (연세대학교 의과대학 소아과학교실, 세브란스 어린이병원) ;
  • 고홍 (연세대학교 의과대학 소아과학교실, 세브란스 어린이병원)
  • Received : 2010.10.11
  • Accepted : 2010.10.26
  • Published : 2011.03.30
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Abstract

Wilson's disease is an autosomal recessive disorder of copper metabolism consequence of which leads to accumulation of copper in the liver, brain, cornea and other tissues. The manifestations are more likely to be hepatic in the early childhood and neurological in the adolescents. In addition, the abnormalities that develop during disease progression may result in other manifestations such as hematologic, endocrine, or renal findings. We report a thirteen year-old girl who manifested tetany shortly after the initial diagnosis of Wilson's disease. Despite aggressive calcium, magnesium and vitamin D replacement, the hypocalcemia and hypomagnesemia did not respond to the therapy promptly. It took more than three weeks for blood levels of the minerals to be normal. We concluded that tetany occurred in our patient because of hypoparathyroidism as a rare complication of Wilson disease, vitamin D deficiency resulting from various conditions, and inconclusive hypomagnesemia.

구리를 운반하는 P형 ATPase 단백을 합성하는 ATP7B 유전자의 돌연변이로 인하여 간, 뇌, 각막, 신장 및 적혈구 등 여러 조직에 구리가 축적되어 발병하는 상염색체 열성 유전 질환인 윌슨병은 간 증상과 신경증상이 주요 증상이지만 이외에도 용혈성 빈혈, 심장, 신장 및 내분비 이상 증상을 초래할 수 있다. 저자들은 윌슨병으로 진단되어 치료 받던 중 부갑상샘의 구리 침착에 의한 것으로 추측되는 부갑상샘저하증, 여러 복합요인에 의한 비타민 D 결핍 그리고 원인이 불명확한 저마그네슘혈증으로 인하여 발생한 테타니를 칼슘, 마그네슘 및 비타민 D 투여로 치료하였던 1예를 경험하였기에 보고하는 바이다.

Keywords

References

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