Recurrent low gamma-glutamyl transpeptidase cholestasis following liver transplantation for bile salt export pump (BSEP) disease (posttransplant recurrent BSEP disease)

Liver Transpl. 2010 Jul;16(7):856-63. doi: 10.1002/lt.22074.

Abstract

Bile salt export pump (BSEP) deficiency is a hereditary cholestatic syndrome that results from mutations in the ABCB11 (ATP-binding cassette B11) gene. Severely affected patients develop end-stage liver disease in the first decade of life. Liver transplantation has traditionally been thought of as curative for BSEP disease. We describe the clinical course of 6 patients who developed recurrent low gamma-glutamyl transpeptidase cholestasis, that mimicks BSEP disease, following transplantation. All had documented genetic defects in ABCB11 that were predicted to lead to a congenital absence of BSEP protein. The time to development of recurrence was variable; 4 underwent repeat liver transplantation for complications of recurrent disease and all 4 again developed recurrent disease after retransplantation. Siblings of these patients who also underwent liver transplantation for BSEP disease have not developed "recurrent" disease. Three of the patients with "recurrent" disease ultimately died, 2 as a direct result of complications of their liver disease.

Publication types

  • Multicenter Study

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B, Member 11
  • ATP-Binding Cassette Transporters / genetics*
  • Child
  • Child, Preschool
  • Cholestasis / epidemiology*
  • Cholestasis / genetics
  • Cholestasis / surgery*
  • Genotype
  • Humans
  • Infant
  • Liver Transplantation*
  • Mutation / genetics*
  • Recurrence
  • Retrospective Studies
  • Survival Rate
  • Treatment Outcome
  • gamma-Glutamyltransferase / deficiency*

Substances

  • ABCB11 protein, human
  • ATP Binding Cassette Transporter, Subfamily B, Member 11
  • ATP-Binding Cassette Transporters
  • gamma-Glutamyltransferase