进行性家族性肝内胆汁郁积。
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Davit-Spraul,冈萨雷斯E Baussan C, Jacquemin E
进行性家族性肝内胆汁郁积。
Orphanet J罕见说。2009年1月8日,4:1。doi: 10.1186 / 1750-1172-4-1。
- PubMed ID
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19133130 (在PubMed]
- 文摘
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进行性家族性肝内胆汁淤积(PFIC)指异质群体常染色体隐性障碍的儿童,扰乱胆汁形成和肝细胞胆汁郁积的起源。确切的发病率仍然未知,但网站和1/100,000分娩之间的估计发病率各不相同。三种类型的PFIC已确定和相关交通系统在肝细胞突变基因胆汁的形成。PFIC1 PFIC2通常出现在生命的最初几个月,还可能出现而出现PFIC3后来在婴儿期,童年甚至在成年早期。主要临床表现包括胆汁淤积、瘙痒和黄疸。PFIC患者通常出现纤维化和终末期肝病成年期之前。血清gamma-glutamyltransferase (GGT)活动是正常的在PFIC1和PFIC2患者,但在PFIC3升高的病人。PFIC1和PFIC2受损引起的胆汁盐分泌分别由于缺陷ATP8B1编码FIC1蛋白,在ABCB11编码胆汁盐出口泵蛋白(BSEP)。缺陷ABCB4、编码耐多药3蛋白(MDR3),影响胆汁分泌磷脂导致PFIC3。诊断是根据临床表现、肝脏超声、胆管造影术和肝脏组织学,以及儿童胆汁郁积的特定测试排除其他原因。 MDR3 and BSEP liver immunostaining, and analysis of biliary lipid composition should help to select PFIC candidates in whom genotyping could be proposed to confirm the diagnosis. Antenatal diagnosis can be proposed for affected families in which a mutation has been identified. Ursodeoxycholic acid (UDCA) therapy should be initiated in all patients to prevent liver damage. In some PFIC1 or PFIC2 patients, biliary diversion can also relieve pruritus and slow disease progression. However, most PFIC patients are ultimately candidates for liver transplantation. Monitoring of hepatocellular carcinoma, especially in PFIC2 patients, should be offered from the first year of life. Hepatocyte transplantation, gene therapy or specific targeted pharmacotherapy may represent alternative treatments in the future.
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