유전자 돌연변이 분석을 이용하여 진단된 Glycogen storage disease type Ia 1례

A Case Report of Genetically Confirmed Glycogen Storage Disease type Ia

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.

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.