Focus on diagnosis and treatment of genetic liver disorders.
10.3760/cma.j.issn.1007-3418.2018.12.001
- Author:
Abuduxikuer KUERBANJIANG
1
;
Y L QIU
1
;
J S WANG
2
,
3
Author Information
1. Department of Hepatology, Children's Hospital of Fudan University, Shanghai 200433, China.
2. Department of Hepatology, Children's Hospital of Fudan University, Shanghai 200433, China
3. Department of Pediatrics, Jinshan Hospital of Fudan University, Shanghai 200433, China.
- Publication Type:Journal Article
- Keywords:
Genes;
Heredity;
Metabolome
- MeSH:
Child;
Databases, Genetic;
Genetic Diseases, Inborn;
Genotype;
Humans;
Liver Diseases/therapy*;
Phenotype
- From:
Chinese Journal of Hepatology
2018;26(12):881-884
- CountryChina
- Language:Chinese
-
Abstract:
The advancement and popularization of molecular diagnostic techniques has challenged and redefined the traditional concept of genetic metabolic disease. Regardless of disease origin, all genetic defects that lead to hepatobiliary dysfunction or structural abnormalities are termed as genetic liver disorders. Online Mendelian Inheritance in Man (OMIM) is a database consisting 693 genetic diseases with clear molecular mechanism of liver related phenotypes. Moreover, the effective measures to control infectious liver disease have strengthened the importance of research in the field of (adult and children) genetic liver disorders at home and abroad by well-recognized hepatologists. Notably, all patients with unexplained hepatopathy and multiple system diseases involving liver and gallbladder needs screening for genetic liver disorders, except for factors such as infection, immunity, drug-related, and anatomical abnormalities. We hope more patients with complicated liver disorders will benefit from definitive diagnosis and effective treatment in the near future with clear explanation of clinical phenotype, genotype, and metabolomics.
