Phenotype #0000041472

Individual ID 00054818
Associated disease PFIC3
Phenotype details 3m-recurrent bouts of jaundice, presented with severe icterus, diarrhea, fever, pruritus; 3y-hepatosplenomegaly, elevated serum liver enzymes, increased γ-GT activity (6x), high serum bile acid concentration (50 x)., prothrombin time 0.50 (normal >0.70); liver biopsy revealed nonspecific portal inflammation, extensive portal fibrosis, cirrhosis, no response to UDCA treatment; 3.5y orthotopic liver transplantation for complications liver cirrhosis, extrahepatic bile ducts patent at time liver transplantation; 6y good clinical condition
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 00y03m
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-11-25 11:33:52 +01:00 (CET)
Date last edited N/A

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