Novel ABCB4 mutations in an infertile female with progressive familial intrahepatic cholestasis type 3: A case report

Table 1 Gene, clinical and histological features of different types of progressive familial intrahepatic cholestasis type 3

	PFIC1	PFIC2	PFIC3
Gene	ATP8B1	ABCB11	ABCB4
Protein	FIC1	BSEP	MDR3
Serum ALT	+	++	+
Serum GGT	Normal	Normal	Elevated
Serum TBA	++	+++	+
Liver histology	Mild cholestasis, mild lobular fibrosis	Cholestasis, portal fibrosis, giant cell hepatitis, hepatocellular necrosis	Bile ductular proliferation, inflammatory infiltrate, and biliary fibrosis

PFIC: Progressive familial intrahepatic cholestasis; FIC1: Familial intrahepatic cholestasis 1; BSEP: Bile salt export pump; MDR3: Multidrug resistance class 3; ALT: Alanine aminotransferase; GGT: γ-glutamyl transpeptidase; TBA: Total bile acid.