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 | |