Clinical and pathological features of inherited metabolic liver disease in adults
10.3760/cma.j.issn.1007-3418.2018.12.003
- VernacularTitle: 成人期遗传代谢性肝病的临床及病理特点
- Author:
Zhiying HE
1
;
Hong YOU
;
Xinyan ZHAO
Author Information
1. Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China
- Publication Type:Journal Article
- Keywords:
Heredity;
Metabolism;
Hepatolenticular degeneration;
Cholestasis
- From:
Chinese Journal of Hepatology
2018;26(12):889-893
- CountryChina
- Language:Chinese
-
Abstract:
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.
