Article
Progressive Familial Intrahepatic Cholestasis Type 2 and Recurrence After Liver Transplantation: A Case Report.
Transplantation proceedings - 1 Jun 2022
Romeres Silas Gustavo Barboza, Trevizoli Natália de Carvalho, Oliveira Carolina Augusta Matos de, Obeid Evelyn Jacome, Arantes Ferreira Gustavo de Sousa, De Campos Priscila Brizolla, Ullmann Raquel Francine Bundchen, Rocha Henrique Carvalho, Figueira Ana Virgínia Ferreira, Diaz Luiz Gustavo Guedes, Jorge Fernando Marcus Felippe, Caja Gabriel Oliveira Nunes, Watanabe André Luis Conde, Sobroza de Mello Evandro, Carvalho Elisa de
Abstract excerpt
Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare autosomal recessive disorder caused by mutations in the ABCB11 gene. Clinical manifestations include cholestasis with low γ-glutamyltransferase (GGT), hepatosplenomegaly, and severe pruritus. Liver transplantation is required for individuals with progressive liver disease or failure of the bypass procedure and has been considered curative....
Topics
- ATP Binding Cassette Transporter, Subfamily B, Member 11
- ATP-Binding Cassette Transporters
- Adult
- Cholestasis
- Cholestasis, Intrahepatic
- Humans
- Liver Transplantation