儿童糖原累积病Ⅰ型2例报告

Report of 2Cases of Children's Glycogen Storage Disease Type Ⅰ

糖原累积病Ⅰ型为常染色体隐性遗传病,多发生于婴幼儿和青少年。本病系先天性肝、肾等组织中缺乏葡萄糖-6-磷酸酶所致。细胞核内糖原累积、肝脂肪变性明显但无纤维化改变是本型突出的病理变化。本病诊断分型的主要依据是肝穿刺新鲜组织酶活性检测。

Glycogen storage disease type I is one of autosomal recessive genetic disease, mostly occurs in infants and young children and adolescents,caused by the congenital lack of glucose -6 - phosphatase in liver, kidney and other tissues. The pathological changes of this type highlight is the nucleus of glycogen accumulation, hepatic steatosis but no fibrosis. Diagnosis of the disease classification is based primarily on the liver puncture detection of enzyme activity of fresh tissue.