Progressive familial intrahepatic cholestasis

Giulia Martina Cavestro, Luca Frulloni, Elena Cerati, Luciana Andrea Ribeiro, Vincenzo Corrente, Mario Sianesi, Angelo Franzé, Francesco Di Mario

Research output: Contribution to journalArticle

Abstract

Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive childhood cholestasis of hepatocellular origin. PFIC 1, also known as Byler disease, was first described in Amish kindred. It is characterized by cholestasis often arising in the neonatal period and it leads to death due to liver failure. PFIC 1, like Benign Recurrent Intrahepatic Cholestasis (BRIC) which is the benign form of the same disease, recognizes mutations in the ATP8B1 gene. PFIC 2 disease is clinically similar to PFIC 1 but it has a different gene mutation causing a defect in the Bile Salt Export Pump (BSEP), exclusively expressed in the liver and involved in the canalicular secretion of bile acids. PFIC 3 usually appears later in life and it has a higher risk of portal hypertension, gastrointestinal bleeding and liver failure. This particular form of disease (the only one with high serum values of g-glutamil transpeptidase), is associated to a genetic defect in the class III multidrug resistance protein (MDR). External biliary diversion and ursodeoxycholic acid therapy, should be considered as the initial therapy in these patients, even if liver transplantation still seems to be the only solution for most patients.

Original languageEnglish
Pages (from-to)53-56
Number of pages4
JournalActa Biomedica
Volume73
Issue number3-4
Publication statusPublished - 2002

Fingerprint

Cholestasis
Liver Failure
Bile Acids and Salts
Amish
Peptidyl Transferases
P-Glycoproteins
Intrahepatic Cholestasis
Ursodeoxycholic Acid
Mutation
Portal Hypertension
Liver Transplantation
Genes
Progressive familial intrahepatic 1 Cholestasis
Hemorrhage
Liver
Therapeutics
Serum
Progressive familial intrahepatic 3 Cholestasis
Progressive familial intrahepatic 2 Cholestasis

Keywords

  • Cholestasis
  • Intrahepatic familial progressive

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Cavestro, G. M., Frulloni, L., Cerati, E., Ribeiro, L. A., Corrente, V., Sianesi, M., ... Di Mario, F. (2002). Progressive familial intrahepatic cholestasis. Acta Biomedica, 73(3-4), 53-56.

Progressive familial intrahepatic cholestasis. / Cavestro, Giulia Martina; Frulloni, Luca; Cerati, Elena; Ribeiro, Luciana Andrea; Corrente, Vincenzo; Sianesi, Mario; Franzé, Angelo; Di Mario, Francesco.

In: Acta Biomedica, Vol. 73, No. 3-4, 2002, p. 53-56.

Research output: Contribution to journalArticle

Cavestro, GM, Frulloni, L, Cerati, E, Ribeiro, LA, Corrente, V, Sianesi, M, Franzé, A & Di Mario, F 2002, 'Progressive familial intrahepatic cholestasis', Acta Biomedica, vol. 73, no. 3-4, pp. 53-56.
Cavestro GM, Frulloni L, Cerati E, Ribeiro LA, Corrente V, Sianesi M et al. Progressive familial intrahepatic cholestasis. Acta Biomedica. 2002;73(3-4):53-56.
Cavestro, Giulia Martina ; Frulloni, Luca ; Cerati, Elena ; Ribeiro, Luciana Andrea ; Corrente, Vincenzo ; Sianesi, Mario ; Franzé, Angelo ; Di Mario, Francesco. / Progressive familial intrahepatic cholestasis. In: Acta Biomedica. 2002 ; Vol. 73, No. 3-4. pp. 53-56.
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