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Table 3 Clinical features of patients in whom pathogenic or likely pathogenic genomic variations were identified

From: Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis

Gene showing sequence variation Subject ID AA change Age at onset (mo) Clinical features Extra-hepatic manifestations Cholestasis of pregnancy in mother Liver biopsy Serum bilirubin (total/conjugated) (mg/dl) ALTa (IU/L) ASTb (IU/L) GGTc (IU/L) SAPd (IU/L) Presence of identical variation in parents
Father Mother
ATP8B1 PF05 p.Gly197LeufsTer10 3.5 Jaundice, intense pruritus (4 mo), skin bleeds Stunting Yes Intracytoplasmic and intracanalicular cholestasis, and paucity of interlobular bile ducts 7.1/5.0 29 45 8 630 Heterozygous Heterozygous
PF20 p.Phe529del 0.25 Jaundice (0.25 mo), pruritus (4 mo), skin bleeds Stunting Intracytoplasmic and intracanalicular cholestasis, and paucity of bile ducts 15.0/11.0 115 92 12 661 Not available for testing Heterozygous
PF19 p.Asp554Asn 3 Jaundice, pruritus (4.5 mo) Bland cholestasis and paucity of bile ducts 21.0/8.0 59 220 43 883 Not available for testing Heterozygous
PF18 p.Glu981Lys 3 Jaundice, intense pruritus (6 mo), skin bleeds Intracytoplasmic and intracanalicular cholestasis, focal bile duct proliferation 19.4/13.9 35 75 9 856 Not available for testing Heterozygous
ABCB11 PF03 p.Met183Thr 5 Intermittent jaundice, intense pruritus, skin bleeds Steatorrhea, wheeze, stunting Unremarkable portal tracts 1.3/0.6 45 62 29 393 Heterozygous Heterozygous
PF21 Possible abnormal splicing 1 Jaundice (1 mo), pruritus (6 mo) Yes Distorted architecture, giant cells, cholestasis, and paucity of bile ducts 9.6/5.8 598 918 57 1374 Variation absent Heterozygous
PF13 p.Val454* 6 Jaundice, pruritus, ascites (21 mo) Cholestasis, giant cells, bile duct proliferation, and bridging fibrosis 12.7/7.2 264 226 16 337 Heterozygous Not available for testing
ABCB4 PF25 p.Arg144Gln 138 Jaundice Stunting Yes Distorted architecture, bridging fibrosis, and cholestasis 15.0/7.7 279 1120 356 461 Heterozygous Heterozygous
PF09 p.Arg159* 54 Jaundice, pruritus, skin bleeds Maintained architecture, mild portal fibrosis, no bile duct proliferation 3.6/2.2 96 84 25 919 Heterozygous Variation absent
  1. aALT alanine aminotransferase (reference value: up to 40 IU/L), bAST aspartate aminotransferase (reference value: up to 40 IU/L), cGGT gamma glutamyl transpeptidase (reference value: up to 86 IU/L), dSAP serum alkaline phosphatase (reference value: up to 150 IU/L for adults, up to 450 IU/L for children)
  2. The patient in this table had a median (range) age of 15 (3–144) months, and included 7 boys and 2 girls