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.

Table 2 Liver function throughout the course of the disease

	Admission	Discharge	Before pregnancy	13th week of pregnancy	21th week of pregnancy	30th week of pregnancy
ALT (7-41 U/L)	151	18	12	85	28	21
AST (13-35U/L)	119	48	38	109	59	53
TBil (3.0-21.0 μmol/L)	28.1	14.1	21.1	27.4	21.5	33.2
DBil (0.1-6.8 μmol/L)	16.1	9.3	12.0	15.3	11.3	20.8
GGT (7-45U/L)	1025	459	301	470	199	148
ALP (35-100 U/L)	226	126	147	223	133	251
TBA (0.0-10.0 μmol/L)	17.2	19.9	15.3	40.5	52.1	81.8

ALT: Alanine aminotransferase; AST: Aspartate aminotransferase; ALP: Alkaline phosphatase; GGT: γ-glutamyl transpeptidase; TBil: total bilirubin; DBil: Direct bilirubin; TBA: Total bile acid.