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糖原累积病Ⅰ型是单基因隐性遗传性疾病,因葡萄糖-6-磷酸酶(G-6-Pase)活性缺乏,糖原贮积于肝、肾和小肠,致使糖原分解和糖异生的葡萄糖不能被分解成葡萄糖-6-磷酸盐,引起空腹低血糖。本病的主要临床表现:低血糖,发育迟缓,肝大,乳酸血症,高尿酸血症和高脂血症,这些异常均归因于慢性低血糖。过去没有重视糖原累积病Ⅰ型表现的肾脏增大问题,作者曾观察到3例患者死于肾功能衰竭,故促使其研究本病的肾脏功能。作者研究了38例糖原累积病Ⅰ型患者,其中10岁
Glycogen storage disease type Ⅰ is a single gene recessive genetic disease, due to the lack of activity of glucose-6-phosphate (G-6-Pase), glycogen storage in the liver, kidney and small intestine, resulting in glycogenolysis and sugar Raw glucose can not be broken down into glucose-6-phosphate, causing fasting hypoglycemia. The main clinical manifestations of the disease: hypoglycemia, stunting, hepatomegaly, lactic acidosis, hyperuricemia and hyperlipidemia, all of which are due to chronic hypoglycemia. In the past, no attention was paid to the problem of renal enlargement of glycogen storage disease type Ⅰ. The authors observed that 3 patients died of renal failure, which prompted them to study the renal function of this disease. The authors studied 38 patients with glycogen storage disease type I, of which 10 years old