Clinical outcomes of surgical management for rare types of progressive familial intrahepatic cholestasis: a case series

Surgical Case Reports

Table 1 Demographic characteristics of patients with PFIC

Case	PFIC type	Sex	Mutation of gene	Genotype	First symptoms/Age at onset of PFIC	Age at diagnosis (years)	Extrahepatic features
1	FIC1 deficiency	Male	ATP8B1	Heterozygous	Jaundice, hepatomegaly/3 months	1.4	Diarrhea, pancreatitis
2	FIC1 deficiency	Male	ATP8B1	Heterozygous	Jaundice, hepatomegaly/1 month	0.6	None
3	BSEP deficiency	Male	ABCB11	Compound heterozygous	Jaundice, hepatomegaly/1 month	0.5	None
4	BSEP deficiency	Female	ABCB11	Compound heterozygous	Jaundice, hepatomegaly/3 months	1	None
5	MDR3 deficiency	Male	ABCB4	Homozygous	Abnormal liver function tests, hepatosplenomegaly/2 months	2.1	None
6	TJP2 deficiency	Female	TJP2	Homozygous	Jaundice, hepatomegaly/1 month	5	Sensorineural deafness

PFIC progressive familial intrahepatic cholestasis, FIC1 familial intrahepatic cholestasis 1, BSEP bile salt export pump, MDR3 multidrug resistance protein 3, TJP2 tight junction protein 2, ATP8B1 ATPase class 8B member 1, ABCB11 ATP binding cassette subfamily B member 11, ABCB4 ATP binding cassette subfamily B member 4