Abstract
BackgroundPartial External Biliary Diversion (PEBD) is a surgical intervention to treat children with Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome (AGS). PEBD can reduce disease progression, and examining the alterations in biliary lipid composition may be a prognostic factor for outcome.MethodsBiliary lipid composition and the clinical course of AGS and PFIC patients were examined before and after PEBD.ResultsPre-PEBD bile from AGS patients had greater chenodeoxycholic/cholic acid (CDCA/CA), bile salt, cholesterol and phospholipid concentrations than PFIC patients. AGS patients, and PFIC patients with familial intrahepatic cholestasis 1 (FIC1) genotype, responded better to PEBD than PFIC patients with bile salt export protein (BSEP) genotype. After successful PEBD, AGS patients have higher biliary lipid concentrations than PFIC patients and PEBD also increases biliary phospholipid concentrations in FIC1 patients.ConclusionBoth AGS and FIC1 patients can benefit from PEBD, and preserved biliary phospholipid concentrations may be associated with better outcomes post-PEBD.
Highlights
Partial External Biliary Diversion (PEBD) is a surgical intervention to treat children with Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome (AGS)
The 3 AGS patients were older than the PFIC patients (15.2 ± 3.27 vs. 3.5 ± 2.49 years, p < 0.001), whereas familial intrahepatic cholestasis 1 (FIC1) disease and bile salt export protein (BSEP) disease patients received PEBD at similar ages (4.25 ± 2.8 vs. 2.53 ± 2.0 years)
We relate the outcome of PEBD and the results of biliary lipid analysis to the specific subsets of genetically defined PFIC
Summary
Partial External Biliary Diversion (PEBD) is a surgical intervention to treat children with Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille syndrome (AGS). Genetic liver diseases are common causes of severe cholestasis and progressive liver disease in children. Alagille Syndrome (AGS) is a systemic disease caused by heterozygous mutations in the Jagged 1 gene (JAG1) or Notch gene (NOTCH2) [1,2]. Progressive familial intrahepatic cholestasis (PFIC) comprises a group of autosomal recessive diseases [3]. Two commonly recognized forms of PFIC are associated with relatively low serum GGT [4]: 1) familial intrahepatic cholestasis 1 (FIC1) disease caused by mutations in ATP8B1 [5] and; 2) bile salt export protein (BSEP) disease caused by mutations in (page number not for citation purposes). AGS is associated with a paucity of interlobular bile ducts while PFIC is associated with defects in bile transporters
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