ABCMdb

PMID: 20800306

Maggiore G, Gonzales E, Sciveres M, Redon MJ, Grosse B, Stieger B, Davit-Spraul A, Fabre M, Jacquemin E
Relapsing features of bile salt export pump deficiency after liver transplantation in two patients with progressive familial intrahepatic cholestasis type 2.
J Hepatol. 2010 Nov;53(5):981-6. doi: 10.1016/j.jhep.2010.05.025. Epub 2010 Jul 29., [PubMed]

Sentences

No. Mutations Sentence Comment

69 ABCB11 p.Val444Ala ABCB11 p.Val444Ala ABCB11 p.Gly982Arg Patient Gender Patient 1 Female ABCB11 mutations Compound heterozygous c.301delCA p.Q101DfsX8 and c.2944G>A p.G982R with c.1331T>C p.V444A Negative 0.1 mmol/L 9 years SC P Growth failure Cirrhosis Hepatocellular cholestasis Giant hepatocytes Portal inflammation 36 234 N 17 Patient 2 Male Homozygous c.77-19T>A leading to abnormal splicing*: p.Y26Ifs7X Homozygous c.1331T>C p.V444A Negative NA 2.8 years SC P Growth failure Cirrhosis Hepatocellular cholestasis Giant hepatocytes 139 100 76 420 2xN 20 Canalicular BSEP staining Age at LT Indication Native liver histology PT (N >70%) Total bilirubin (N <17&#b5;mol/L) ALT (N <40 IU/L) AFP Serum liver tests at LT GGT (N <60 IU/L) Biliary bile acids (N >10 mmol/L) SC, severe cholestasis; P, pruritus refractory to medical management; PT, prothrombin time; ALT, alanine aminotransferase; AFP; alpha fetoprotein; GGT, gamma-glutamyl transpeptidase; BSEP, bile salt export pump, LT, liver transplantation; NA, not available; *, in silico test predicts abnormal splicing [2]. Login to comment