ABCMdb

PMID: 11815775

Chen HL, Chang PS, Hsu HC, Ni YH, Hsu HY, Lee JH, Jeng YM, Shau WY, Chang MH
FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels.
J Pediatr. 2002 Jan;140(1):119-24., [PubMed]

Sentences

No. Mutations Sentence Comment

52 ABCB11 p.Gly1004Asp ABCB11 p.Val284Leu onset/sex Symptoms follow-up Outcome features Genotype 1 1 mo/F Persistent JD, intractable 6 y Liver Hepatocellular FIC1: heterozygous pruritus, hepatomegaly, transplantation cholestasis, lobular deletion at mild diarrhea in infancy at 5.5 y disarray, Byler`s bile, nucleotide positions cirrhosis at 556~628; heterozygous hepatectomy nonsense mutation Q1131X 2 1 mo/F Persistent JD, rickets, 3.5 y Alive, growth Bland cholestasis, FIC1: homozygous pruritus, failure retardation fine granular bile missense mutation to thrive R296C 3 8 mo/M Mild JD, chronic 3 y Alive, progressive Cholestasis, FIC1: homozygous diarrhea in infancy JD, growth mild fibrosis missense mutation retardation I694N 4 1 mo/M JD, rickets 14 mo Alive Cholestasis, ND moderate fibrosis 5 1 mo/M Persistent JD 17 mo Biliary diversion Cholestasis, FIC1: heterozygous at 1 y, portal fibrosis, deletion at nucleotide moderate JD Byler`s bile position 185~282 6 Birth/F Progressive JD, 14 mo Death GCT, feathery FIC1 and BSEP: variceal bleeding degeneration no mutation 7 1 mo/F Persistent JD, 21 mo Alive, mild JD, GCT, pericellular BSEP: heterozygous severe pruritus, severe pruritus fibrosis 1 bp deletion at position chronic diarrhea 1145, and heterozygous V284L mutation 8 1 mo/F Progressive JD, 10 mo Alive, GCT, portal fibrosis BSEP: homozygous failure to thrive moderate JD G1004D mutation 9 1 mo/M Progressive JD, 4 mo Death GCT, fibrosis ND hepatic failure 10 Birth/F Progressive JD, 5 mo Death GCT, fibrosis ND hepatic failure 11 1.5 mo/M Progressive JD, 12 mo Death GCT ND hepatic failure 12 1 mo/M Progressive JD, 5 mo Death GCT, portal fibrosis ND hepatic failure 13 Birth/M Progressive JD, 15 mo Liver GCT, fibrosis ND failure to thrive, transplantation hepatic failure at 1 y All patients except 9 and 10 were of Chinese descent. Login to comment 78 ABCB11 p.Val284Leu A heterozygous 850G࢐C (V284L), and a heterozygous 1-bp deletion at position 1145 was found in 1 patient. Login to comment 80 ABCB11 p.Val284Leu The V284L missense mutation was in the intracellular loop between transmembrane spans 4 and 5. Login to comment 95 ABCB11 p.Gly1004Asp A homozygous missense mutation 3137 G࢐A (G1004D) was found in another case. Login to comment 111 ABCB11 p.Glu297Gly ABCB11 p.Val284Leu The BSEP (ABCB11) mutation V284L found in case 7 was in the vicinity of common European mutation E297G.7 No common mutations were shared among our patients, indicating that these mutations did not come from 123 Group 1 Group 2 P (n = 5) (n = 8) value Peak bilirubin (<17.1 &#b5;mol/L) 277 615 .059 (Range) (137-573) (180-1094) Peak AST (<60 U/L) 137 876 .002* (Range) (50-384) (504-1530) Peak ALT (<50 U/L) 74 471 .001* (Range) (24-174) (237-847) Serum GGT (<94 U/L) 24 55 .018* (Range) (14-41) (23-98) Serum bile acid (<10 &#b5;mol/L) 180 71 .001* (Range) (139-214) (16-127) Serum cholesterol (<200 U/L) 103 196 .207 (Range) (74-134) (47-438) Serum triglyceride (<200 U/L) 206 209 .966 (Range) (106-323) (38-448) AFP SD score 0.57 8.76 .007* (Range) (0-1.36) (2.4-16.2) Group 1, Patients with bland cholestasis in histology; Group 2, patients with giant cell transformation in histologic features. Login to comment