유전자 돌연변이 분석을 이용하여 진단된 Glycogen storage disease type Ia 1례
A Case Report of Genetically Confirmed Glycogen Storage Disease type Ia
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초록
저자들은 혈뇨와 관절 구축 및 발달 지연으로 내원한 의료적 방임 상태의 14세 여자 환자에서 간종대로 인한 복부팽만, 성장발육부전, 다발성 병적 골절에 의한 관절 구축 등의 임상 양상과 저혈당, 고 지혈증, 고 뇨산혈증, 혈뇨 및 요 결석, 고칼슘뇨증 등의 생화학 검사 소견과 함께 유전자 돌연변이 분석을 이용하여 진단된 당원병 제 Ia 환자 1례를 보고하는 바이다.
Abstract
Glycogen storage disease(GSD) type Ia is an autosomal recessive disease, caused by the absence or deficiency of glucose-6-phosphatase activity in the liver, kidney, and intestinal mucosa. Glucose-6-phosphatase is an essential enzyme necessary for gluconeogenesis and glycogenolysis. GSD type Ia is characterized by hypoglycemia, lactic acidosis, hepatomegaly, seizures, doll-like faces with fat cheeks, thin extremities, short stature, protuberant abdomen, easy bruising and epistaxis, delayed puberty, early gout, pancreatitis, kidney stone, and other metabolic derangements such as hyperlipidemia. The most important complications of GSD-Ia are focal segmental glomerulosclerosis and hepatic adenomas. Various mutations have been reported. The most common mutation sites are g727t, G122D, and T255I and also P178A and Y128X muations have been reported. We experienced a female patient showing typical clinical characteristics, laboratory findings such as hypoglycemia, hyperuricemia, and hyperlipidemia, and g727t mutation confirmed by DNA analysis. We present this case with a brief review of related articles.
참고문헌 (16)
- Wolfsdorf JI., "Glycogen storage diseases: Phenotypic, genetic, and biochemical characteristics, and therapy", Endocrinol Metab Clin North Am, 28, pp.801~823 (1999)
- Stetton D Jr., "Glycogen metabolism", Physiol Rev, 40, pp.606~ (1960)
- Beaudet A., "Neutropenia and impaired neutrophil migration in type Ib glycogen storage disease", J Pediatr, 97, pp.906~910 (1980)
- 양혜란, "당원병 제1형의 장기 추적 관찰; 간선종 발생의 위험요인에 대한 연구", Pediatric Gastroenterology, Hepatology & Nutrition, 6(2), pp.129~139 (2003), 대한소아소화기영양학회
- Kim JW., "Mutation analysis of Korean patients with glycogen storage disease type Ia", Korean J Pediatr Gastroenterol, 4, pp.213~217 (2001)
- Lei KJ., "Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a", Science, 262, pp.580~583 (1993)
- Rake JP., "Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart", Eur J Pediatr, 159, pp.322~330 (2000)
- Parvari R., "Glycogen storage disease type Ia in Israel: biochemical, clinical, and mutational studies", Am J Med Genet, 72, pp.286~290 (1997)
- Okubo M., "Identification of a point mutation(G727T) in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia, and carrier screening in healthy volunteers", Clin Genet, 51, pp.179~183 (1997)
- Akanuma J., "Glycogen storage disease type Ia : molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells", Am J Med Genet, 91, pp.107~112 (2000)
- Chang SC., "Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia", J Hum Genet, 45, pp.197~199 (2000)
- Lam CW., "Glucose-6-phosphatase gene(727G→T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a", Clin Genet, 53, pp.184~190 (1998)
- Takahashi K., "Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia", Am J Med Genet, 92, pp.90~94 (2000)
- 고재성, "한국인 당원병 제 Ia형에서 유전형의 임상 양상", Korean Journal of Pediatrics, 48(8), pp.877~880 (2005), 대한소아과학회
- Zingone A., "Correction of glycogen storage disease type 1a in a mouse model by gene therapy", J Biol Chem, 275, pp.828~832 (2000)
- Ghosh A., "Long- term correction of murine glycogen storage disease type Ia by recombinant adeno-associated virus-1-mediated gene transfer", Gean therapy, 13, pp.321~329 (2006)