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Table 1 Demographic characteristics of patients with PFIC

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

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
  1. 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