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虽先天性代谢缺陷导致肝硬化是一种罕见的疾病,但是该病还常在婴儿和儿童中发生。现在已确定有三组。 1.肝汁型肝硬化:其中已知含原发酶缺乏者有:α-1-抗胰蛋白酶缺乏,Byler＇s病(鹅脱氢胆酸盐分泌缺陷),一些非综合征性的叶间胆管缺乏的病例和一些囊性纤维化的病例。 2.先天性碳水化合物代谢缺陷:遗传性果糖不耐受性,半乳糖血症和Ⅳ型糖元累积疾病。 3.先天性氨基酸代谢缺陷:唯一已知此类代谢缺陷能导致进行性肝硬化者是遗传性酪氨酸血症,(延胡索酰乙酰乙酸水解酶缺乏)。这种疾病的自然转归是可怕的:在儿童时候就出现严重的肝硬化、肝功能衰退以至死
Although cirrhosis is a rare disease caused by an inborn metabolic defect, the disease often occurs in infants and children. It has now been identified that there are three groups. 1. Liver Cirrhosis: Among them, those known to lack primary enzymes are: alpha-1-antitrypsin deficiency, Byler’s disease (defective goose dehydrocholinate secretion), non-syndromic leaf Between the cases of a lack of bile ducts and some cases of cystic fibrosis. 2 congenital carbohydrate metabolism defects: hereditary fructose intolerance, galactosemia and type Ⅳ glycogen accumulation disease. 3 congenital amino acid metabolism defects: the only known such metabolic defects can lead to progressive cirrhosis are hereditary tyrosinemia, (lack of fumarylacetoacetate hydrolase). The natural outcome of the disease is horrible: severe cirrhosis, a decline in liver function, and even death in childhood