Table. 2.

Table. 2.

Profiles of bile salt export pump (BSEP) immunostaining and gene analysis

Case no. PFIC type BSEP immunostaining Gene Mutation Mutation type
1 2 Total loss ABCB11 on 2q24 Absent None
2 2 Total loss ABCB11 on 2q24 Absent None
3 1 Intact ATP8B1 on 18q21 c.1753G > T (p.Glu585*) (p.E585*) Nonsense, homozygous
4 2 Focal loss ABCB11 on 2q24 Absent None
5 2 Focal loss ABCB11 on 2q24 c.1416T > A (p.Tyr472*) (p.Y472*) Nonsense, homozygous
6 1 Intact ATP8B1 on 18q21 Absent None
7 2 Total loss NA NA NA

PFIC, progressive familial intrahepatic cholestasis; NA, not available.

Ann Hepatobiliary Pancreat Surg 2022;26:69-75 https://doi.org/10.14701/ahbps.21-114
© 2021 Ann Hepatobiliary Pancreat Surg