Genetik metabolischer und viraler Lebererkrankungen
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- 作者：T. Herta ; J. Fischer ; Prof. Dr. T. Berg
- 关键词：SchlüsselwörterMorbus Wilson ; Hämochromatose ; Hepcidin ; NAFLD ; Humane Virushepatitis ; AFLD
- 刊名：Der Gastroenterologe
- 出版年：2017
- 出版时间：February 2017
- 年：2017
- 卷：12
- 期：1
- 页码：16-31
- 全文大小：
- 刊物主题：Gastroenterology; General Practice / Family Medicine; Internal Medicine; Hepatology; Infectious Diseases; Oncology;
- 出版者：Springer Medizin
- ISSN：1861-969X
- 卷排序：12
文摘
Genetic diagnostics have become established as state of the art for the early diagnosis of hereditary diseases. Through preventive therapy strategies, the prognosis for patients with these diseases has improved. Typical examples are hereditary hemochromatosis and Wilson’s disease. The variable clinical picture of these monogenetic diseases is — in addition to exogenous factors — primarily influenced by the causative mutation in the Wilson gene ATP7B or the hemochromatosis genes HFE, HFE2, HAMP, TRF2, and SLC40A1. Over the last 10 years, genome-wide association studies (GWAS) have identified relevant susceptibility and progression modifying mutations for complex systemic diseases such as alcoholic and nonalcoholic fatty liver disease or chronic viral hepatitis. Among them are genes for lipid metabolism such as PNPLA3, TM6SF2, and MBOAT7 as well as of the innate immunity (interferon λ, toll-like receptors) and the HLA system. The discovery of these mutations has significantly improved our understanding of pathogenesis, therapy response, and the individual risk of progression in chronic liver diseases. It is only a matter of time until these revelations will be included in routine diagnostics and thereby allow individual genetic risk profiles for an individually adapted and optimized care, surveillance, and treatment of our patients.