几种重要遗传代谢性肝病肝纤维化的比较研究  

Comparative study of liver fibrosis in several kinds of inherited metabolic liver disorders

作　　者：周光德[1] 赵景民[1] 孙艳玲[1] 赵雨来[1] 潘登[1] 杨建法[1] 

机构地区：[1]解放军第三○二医院,北京100039

出　　处：《传染病信息》2008年第5期284-286,共3页Infectious Disease Information

摘　　要：目的探讨我国代谢性肝病的发病状况,比较研究几种代谢性肝病的肝纤维化特点。方法收集行活体肝组织穿刺病理学诊断(肝穿)的肝豆状核变性、遗传性血色病、糖原累积症、先天性肝纤维化、α1-抗胰蛋白酶缺乏症及遗传性脂类代谢性肝病等几种常染色体隐性遗传性代谢性肝病病例共150例,进行流行病学资料分析、血清生化检测及肝穿。结果150例遗传代谢性肝病患者发病年龄为(10.50±8.14)岁,男女之比为7:3,其中肝豆状核变性84例,糖原累积症42例,遗传性血色病4例,遗传性脂质代谢性肝病4例,先天性肝纤维化14例(其中3例伴Caroli病),α1-抗胰蛋白酶缺乏症2例。77.33%的遗传代谢性肝病表现为转氨酶升高,其临床表现多为非特征性改变,临床初诊正确率仅为16%。遗传代谢性肝病肝纤维化普遍发生,尤以先天性肝纤维化和肝豆状核变性的肝硬化发生率高、纤维化程度重,炎症活动度则除肝豆状核变性以外,其他遗传代谢性肝病的炎症活动度均较低。结论遗传代谢性肝病发病年龄低,临床表现多为非特征性,肝纤维化发生率高、程度重,提示临床对于遗传代谢性肝病肝纤维化的防治应充分重视,提早进行。肝穿是确诊遗传代谢性肝病的有效手段。Objective To investigate the incidence of metabolic liver disorders and compare the features of hepatic fibrosis among these disorders. Methods A total of 150 cases of inherited metabolic liver disorders, such as Wilson＇s disease, idiopathic haemochromatosis, glycogen storage disease, congenital hepatic fibrosis, α1-antitrypsin deficiency and disorders of lipoprotein and lipid metabolism were included in this study. Data of epidemiology, serology and histopathology were analyzed. Results Of the 150 cases, 105 were men and 45 women, with a mean onset age of 10.50±8.14 years old, with 84 cases of Wilson＇s disease, 42 cases of glycogen storage disease, 4 cases of idiopathic haemochromatosis, 4 cases of disorders of lipoprotein and lipid metabolism, 14 cases of congenital hepatic fibrosis （3 cases complicated by Caroli disease） and 2 cases of α1-antitrypsin deficiency. Alanine aminotransferase （ALT） elevated in 77.33% of the patients, and the clinical manifestations were mild and non-specific. The initial diagnostic accuracy was only 16%. Hepatic fibrosis or liver cirrhosis commonly developed in the patients with inherited metabolic liver disorders, especially with higher incidence rate and more severe degrees in congenital hepatic fibrosis and Wilson＇s disease. Inflammation activity remained lower in patients with the other inherited metabolic liver disorders except Wilson＇s disease. Conclusions Inherited metabolic liver disorders occur in the population at younger age, with no characteristic manifestations but with higher incidence rate and more severe degree of hepatic fibrosis, so it is suggested that the prevention and treatment of hepatic fibrosis in inherited metabolic liver disorders should be paid due attention and be carried out at early stage.

关 键 词：肝纤维化 遗传代谢性肝病 病理 

分 类 号：R575[医药卫生—消化系统]