Progressive Familial Intrahepatic Cholestasis: Need for Genetic Analysis Before Liver Transplantation.
J Clin Exp Hepatol
; 12(2): 686-688, 2022.
Article
em En
| MEDLINE
| ID: mdl-35535065
ABSTRACT
The clinical course after liver transplantation (LT) in progressive familial intrahepatic cholestasis type 1 (PFIC1) is complicated by intractable diarrhoea, growth failure, graft steatosis and cirrhosis. Recent evidence from Japan suggests the role of genotype to predict outcome after LT. We report a case with pathogenic frameshift mutation who had failed partial external biliary diversion, underwent LT and his post-LT course has been complicated by intractable diarrhoea, growth failure, steatosis and fibrosis. This case highlights the fact that homozygous frameshift p.Gly197LeufsTer10 mutation in ATP8B1 is associated with poor outcome and genetic evaluation should be mandatory before subjecting the patient to LT.
Texto completo:
1
Base de dados:
MEDLINE
Tipo de estudo:
Prognostic_studies
Idioma:
En
Revista:
J Clin Exp Hepatol
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Índia