Update on progressive familial intrahepatic cholestasis

被引:65
作者
Alissa, Feras T. [2 ,3 ]
Jaffe, Ronald [1 ]
Shneider, Benjamin L. [2 ,3 ]
机构
[1] UPMC, Childrens Hosp, Pittsburgh, PA 15213 USA
[2] Univ Pittsburgh, Sch Med, Dept Pediat, Pittsburgh, PA USA
[3] Univ Pittsburgh, Sch Med, Dept Pathol, Pittsburgh, PA USA
关键词
liver; bile; transplant; transporter; cirrhosis;
D O I
10.1097/MPG.0b013e3181596060
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Three distinct forms of familial intrahepatic cholestasis are the result of mutations in the ATP8BI, ABCB11, and ABCB4 genes. The pathophysiologies of the latter 2 of these diseases are well characterized and are the result of abnormalities in canalicular excretion of bile acids and phospholipids, respectively. The molecular pathophysiology of the systemic disease associated with mutations in ATP8B1 remains unclear. In all of these diseases, wide variations in clinical phenotypes have been observed. The variability can be ascribed at least in part to predicted genotype: phenotype correlations. Disease- and genotype-specific prognoses and therapeutic approaches may exist, although much more information needs to be ascertained before clinicians can confidently make decisions based on genetic information.
引用
收藏
页码:241 / 252
页数:12
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