Phenotype #0000041473

Individual ID	00054819
Associated disease	PFIC3
Phenotype details	8m recurrent episodes severe pruritus; 3y hepatosplenomegaly, strongly increased serum γ-GT activity (38x), increased serum bile acids (16x), serum aspartate and alanine aminotransferase activities mildly elevated, prothrombin time 0.10 (normalized after vitamin K1 injection); liver histology ductular proliferation, extensive portal fibrosis; cholangiography normal intra-/extrahepatic bile ducts; 4y-UDCA treatment ineffective, liver enzymes and liver histology further deteriorated toward end-stage liver disease with ascites and severe jaundice; 9y-liver transplantation, now good clinical condition
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	00y08m
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2015-11-25 11:43:32 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD