换一批
换一批摘要遗传性肝内胆汁淤积症是儿童期死亡或致残的重要原因.随着分子医学的发展,一系列基因突变导致的家族性肝内胆汁淤积症(ATP8B1缺陷、ABCB11缺陷、ABCB4缺陷、TJP2缺陷、NR1H4缺陷、MYO5B缺陷)陆续被发现和认识.这些患儿若得不到及时干预,多在儿童期发展为肝硬化和肝衰竭.因此,早期诊断和干预对改善预后十分重要.
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abstractsHereditary intrahepatic cholestasis is an important cause of death or disability in childhood. With the development of molecular medicine,a series of familial intrahepatic cholestasis caused by gene mutations (ATP8B1 deficiency,ABCB11 deficiency,ABCB4 deficiency,TJP2 deficiency,NR1H4 deficiency and MYO5B deficiency)have been discovered successively. If these patients do not receive early intervention,they often develop liver cirrhosis and liver failure in childhood. Therefore,early diagnosis and intervention are very important for improving prognosis.
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DOI
10.3760/cma.j.issn.2095-428X.2018.19.003
发布时间
2019-01-11
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- 被引10
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