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

대한유전성대사질환학회 (The Korea Society of Inherited Metabolic Disease)
권호 표지

당원병 제 Ia형 환아들의 임상적 고찰

Clinical findings of Glycogen Disease Type Ia Patients in Korea

  • 박민주 (순천향대학병원 소아과학교실) ;
  • 안희재 (순천향대학병원 소아과학교실) ;
  • 이정호 (순천향대학병원 소아과학교실) ;
  • 이동환 (순천향대학병원 소아과학교실)
  • Park, Minju (Department of Pediatrics, Soonchunhyang University Hospital) ;
  • Ahn, Hee Jae (Department of Pediatrics, Soonchunhyang University Hospital) ;
  • Le, Jeongho (Department of Pediatrics, Soonchunhyang University Hospital) ;
  • Lee, Dong Hwan (Department of Pediatrics, Soonchunhyang University Hospital)
  • 발행 : 2014.12.25
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초록

목적: 당원병은 장기 내에 글리코겐이 축적되는 선천적 대사이상 질환으로 그 중 제 Ia형이 가장 많다. 당원병 제 Ia형으로 진단받은 환아들의 검사소견 및 임상양상에 대해 알아보았다. 방법: 2002년 7월부터 2014년 7월까지 서울 순천향대학병원 소아청소년과에서 당원병 제 Ia형으로 진단된 환아 5명을 대상으로 임상적 특성과 유전자 변이에 대해 분석하였다. 결과: 본원에서 당원병 제 Ia형을 진단받은 환아들의 진단 당시 나이는 생후 6개월에서 16세까지 분포하였다. 환아들은 내원 당시 모두 간 비대가 있었으며 초음파 검사상 지방간이 확인되었고, 신체발달은 모두 정상이었다. 검사실 소견상 5명 모두에게 고지혈증, 고요산혈증, 젖산혈증이 확인되었으며 빈혈이 있는 환아는 3명, 저혈당증을 보인 환아는 한 명이었다. 5명의 환아는 유전자분석을 통해 확진 하였으며 발견된 유전자형은 c.648G>T의 동형접합, c.122G>A/c.648G>T, c.248G>A/c.648G>T였다. 환아 중 1명에서 신장 결석이 관찰되어 구연산칼륨을 복용 중이며, 1명의 환아가 갑상선기능저하증을 진단받아 씬지로이드 복용 중이고 2명의 환아는 항고지혈증 약을 복용하며 조절 중으로 그 중 1명은 12세에 모야모야병을 진단받고 수술 받은 과거력 있으며 현재 만성 신부전으로 투석치료 중이다. 5명 모두 하루 3회 식사와 3회의 간식, 4번의 옥수수전분 투여를 시행하고 있다. 결론: 본원에서 진단된 당원병 제 Ia형 환아들은 모두 신체진찰상 간 비대 소견을 보였으며 검사실 소견상 고지혈증, 고요산혈증, 젖산혈증이 관찰되었다. 따라서 이러한 증상을 가진 환아들에게 유전자검사를 시행하여 당원병의 조기 진단율을 높일 수 있을 것이라 생각된다. 또한 16세에 진단받은 환아의 경우 치료에도 불구하고 간경화가 진행되고 만성 신부전으로 투석치료를 하고 있어 조기 진단 및 치료가 후기 합병증 예방에 중요하며 당원병과 함께 동반될 수 있는 모야모야병이나 당원병의 합병증으로 잘 알려져 있는 신장결석 등의 다른 질환으로 먼저 진단된 환아들도 위와 같은 임상증상이 나타난다면 반드시 당원병 제 Ia형을 의심해보아야 하겠다.

Purpose: There are 15 types of Glycogen storage disease (GSD) that have been identified, and GSD type Ia is the most common type. There are several studies of Korean GSD type Ia patients' long-term complications. The aim of this study to find out clinical symptoms and prognosis of GSD type Ia patients. Methods: We performed clinical, biochemical and genetic analysis retrospectively on five patients diagnosed with GSD type Ia in a Soonchunhyang University Hospital from July 2002 to July 2014. Results: All patients had hepatomegaly at diagnosis, and they were all confirmed to have fatty liver at abdomen USG. They had no developmental delay, but two of them had growth retardation. Elevated blood lactate, triglyceride, and uric acid levels can find out all patients, but only one patient had hypoglycemia. They are diagnosed with GSD through gene analysis, and by gene analysis, they have c.648G>T (homozygote, splicing mutation), c.122G>A/c.648G>T, c.248G>A/c.648G>T mutations. Treatment with three times meals, three times snacks and four to six times use of uncooked constarch for all patients. Following the progress, one of them resulted in hypothyroidism, other one had renal stones. A patient diagnosed at 16 years old had liver cirrhosis and started having hemodialysis for ESRD. Conclusion: GSD type Ia patients had hepatomegaly, hyperlipidemia, hyperuricemia, and lactacidemia. Therefore patients who have such these symptoms are recommended gene analysis. A patient diagnosed at 16-years-old had liver cirrhosis and ESRD in progress, early diagnosis and treatment are important for GSD type Ia patients.

키워드

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