Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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A Patient with Mitochondrial Myopathy who Experienced Diabetic Ketoacidosis with Auto-antibody

사립체 근병증 환자에서 발생한 자가항체 양성의 당뇨병성 케톤산증 1례

  • Nam, Soon Young (Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Huh, Rimm (Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kwun, Younghee (Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Lee, Jieun (Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Cho, Sung Yoon (Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Jin, Dong-Kyu (Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • 남순영 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 허림 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 권영희 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 이지은 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 조성윤 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 진동규 (성균관대학교 의과대학 삼성서울병원 소아청소년과)
  • Published : 2014.12.25
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Abstract

Mitochondrial myopathy results from a primary dysfunction of the respiratory chain and is frequently accompanied with endocrine manifestations. Among the endocrine manifestations of mitochondrial disease, diabetes mellitus is relatively common. Diabetes mellitus in the mitochondrial myopathy is usually insulin dependent due to the defect in insulin secretion resulted from mitochondrial dysfunction. But it is seldom manifested as diabetes ketoacidosis and doesn't usually have an auto-antibody. We report a patient with mitochondrial myopathy who was diagnosed as having diabetes mellitus by presenting as diabetes ketoacidosis and had both of the auto-glutamic acid decarboxylase (GAD) antibody and anti-insulin auto-antibody.

사립체 근병증은 사립체 호흡 사슬의 장애로 인한 것으로 내분비계 관련 증상이 흔히 동반되고 그 중 당뇨병이 상대적으로 높은 빈도를 보인다고 알려져 있다. 사립체 근병증에서의 당뇨병은 사립체 기능 장애로 인한 인슐린 분비의 결함으로 발생하고, 대개 인슐린 의존성이나 당뇨병성 케톤산증으로 발현하거나 자가 항체가 검출되는 경우는 드물다. 저자들은 사립체 근병증 환자에서 당뇨병성 케톤산증으로 발현하고 Anti-GAD antibody와 Anti-insulin auto-antibody가 모두 양성으로 확인된 인슐린 의존성 당뇨병을 진단하였기에 이를 기존의 문헌과 비교하여 보고하는 바이다.

Keywords

References

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