He Z Y, You H, Zhao X Y
Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.
Zhonghua Gan Zang Bing Za Zhi. 2018 Dec 20;26(12):889-893. doi: 10.3760/cma.j.issn.1007-3418.2018.12.003.
Inherited metabolic liver disease is a kind of metabolic disorders caused by the interactions between host and environmental factors because of genetic defects. The incidence of inherited metabolic liver disease is low and its clinical manifestations are complex and diverse, which initiates difficulties in clinical diagnosis. In addition, hereditary hemochromatosis and Wilson's disease are common types of metabolic abnormalities, often seem in clinical practice, and early diagnosis and treatment can improve the prognosis. Benign recurrent intrahepatic cholestasis in cholestatic liver disease is a benign phenotype of progressive familial intrahepatic cholestasis and progressive familial intrahepatic cholestasis type 3 can progress to adulthood with a poor outcome. The incidence of Gilbert's syndrome is higher in congenital metabolic diseases, and the prognosis is good in absence of special treatment but most importantly, it should be differentiated from Crigler-Najjar syndrome and Dubin-Johnson syndrome. Presently the general characteristic of inherited metabolic liver disease in Chinese population is still vague.
遗传性代谢性肝病是由于遗传缺陷导致宿主与环境因素相互作用引起的一种代谢紊乱。遗传性代谢性肝病发病率低,临床表现复杂多样,给临床诊断带来困难。此外,遗传性血色素沉着症和威尔逊氏病是常见的代谢异常类型,在临床实践中经常出现,早期诊断和治疗可改善预后。胆汁淤积性肝病中的良性复发性肝内胆汁淤积是进行性家族性肝内胆汁淤积的一种良性表型,而进行性家族性肝内胆汁淤积3型可发展至成年期,预后不良。吉尔伯特综合征在先天性代谢疾病中发病率较高,未经特殊治疗预后良好,但最重要的是,应与克里格勒 - 纳贾尔综合征和杜宾 - 约翰逊综合征相鉴别。目前中国人群遗传性代谢性肝病的总体特征仍不明确。