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

대한유전성대사질환학회 (The Korea Society of Inherited Metabolic Disease)
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간 0형 당원축적병의 임상 표현형과 식사관리

Clinical Phenotypes and Dietary Management of Hepatic Glycogen Storage Disease Type 0

  • 신영림 (순천향대학교 의과대학 소아청소년과학교실)
  • Young-Lim Shin (Department of Pediatrics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine)
  • 발행 : 2023.12.31
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⟨ 이전 논문 다음 논문 ⟩

초록

간 당원축적병 0형은 glycogen synthase 2 유전자에 부호화되어 있는 간 당원 합성효소의 결핍으로 비정상적으로 당원 생성이 되는 상염색체 열성 유전 질환이다. 당원축적병 0형의 임상 양상은 공복시에 고케톤혈증 저혈당증을 나타내고 식사후 고혈당과 고젖산혈증을 보인다. 당원축적병 0형은 현재까지 적은 수만 보고되었는데 증상이 경하거나 심한 저혈당이 드물고 또는 무증상이거나 나이가 듦에 따라 점차 증상이 사라지는 양상을 보이기 때문에 진단을 놓치는 경우가 있을 것으로 생각된다. 필수적 치료 전략은 포도당신생성을 자극하기 위해 고단백 식사, 낮동안 저혈당을 방지하기 위해서 잦은 식사 횟수, 밤 동안 천천히 포도당을 방출하기 위해 생옥수수전분가루 같은 복합 탄수화물을 먹는 것이다. 당원축적병 0형은 예후는 좋고 적절한 치료를 하면 정상적으로 성장하며 합병증도 발생하지 않는다. 성인이 될수록 심한 저혈당은 보이지 않게 되지만 지속적인 식사 관리는 필요하다.

The hepatic glycogen storage disease type 0 (GSD type 0) is an autosomal recessive disorder caused by a deficiency of hepatic glycogen synthase encoded by the glycogen synthase 2 (GYS2) gene, leading to abnormal synthesis glycogen. The clinical findings of GSD type 0 are hyperketotic hypoglycemia at fasting state and accompanying postprandial hyperglycemia and hyperlactatemia. GSD type 0 has only been reported in a very small number so far, and the diagnosis is likely to be missed because symptoms are mild, severe hypoglycemia is rare or asymptomatic, or symptoms gradually disappear with age. Essential management strategies include feeding high-protein meals to stimulate gluconeogenesis, frequent meals to prevent hypoglycemia during the day and feeding complex carbohydrates such as uncooked cornstarch to slowly release glucose during nignt. GSD type 0 has a good prognosis, with appropriate treatment, normal growth can be achieved and no complications occur. Significant hypoglycemia occurs less common in adulthood, but ongoing dietary management may be necessary.

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