Paediatric cholestatic liver disorders for the adult gastroenterologist: a practical guide

Abstract

With improvements in the outcomes for cholestatic liver diseases that present in childhood, increasing numbers of patients will require ongoing care as adults. The recent advances in management options coupled with the fact that each adult physician will have a limited number of patients with these conditions means there is a need for those in adult services to develop expertise in these conditions that were historically the domain of paediatrics. This review provides an overview of the most common paediatric cholestatic liver diseases and outlines the clinical manifestations and potential complications, and identifies key management issues unique to each condition for effective ongoing care of these patients.

Keywords: cholestasis; cholestatic liver diseases; paediatric liver disease.

Figure 1

Biliary atresia. Type I, bile ducts are patent from the porta hepatis to the common bile duct and cystic duct. Type IIa, bile ducts are patent to the common hepatic duct. Type IIb, the cystic, common duct are obliterated. Type III, obstruction from the extrahepatic bile ducts to the porta hepatitis (>90% cases).

Figure 2

Summary of the genetic mutations and subsequent changes to bile transport seen in PFIC. BSEP, bile salt export pump; FIC1, familial intrahepatic cholestasis 1 gene; GGT, gamma‐glutamyl transferase; MDR1, multidrug resistance protein-1 P-glycoprotein; MDR3, multidrug resistance protein-3 P-glycoprotein; MRP2, multiple drug resistance protein 2; PFIC, progressive familial intrahepatic cholestasis; PFIC2, PFIC type 2; PFIC3, PFIC type 3; PFIC4, PFIC type 4.

Figure 3

Extrahepatic manifestations of Alagille syndrome.