Differences in presentation and progression between severe FIC1 and BSEP deficiencies

• Published in: Journal of hepatology Vol. 53; no. 1; pp. 170 - 178
• Main Authors: Pawlikowska, Ludmila, Strautnieks, Sandra, Jankowska, Irena, Czubkowski, Piotr, Emerick, Karan, Antoniou, Anthony, Wanty, Catherine, Fischler, Bjorn, Jacquemin, Emmanuel, Wali, Sami, Blanchard, Samra, Nielsen, Inge-Merete, Bourke, Billy, McQuaid, Shirley, Lacaille, Florence, Byrne, Jane A, van Eerde, Albertien M, Kolho, Kaija-Leena, Klomp, Leo, Houwen, Roderick, Bacchetti, Peter, Lobritto, Steven, Hupertz, Vera, McClean, Patricia, Mieli-Vergani, Giorgina, Shneider, Benjamin, Nemeth, Antal, Sokal, Etienne, Freimer, Nelson B, Knisely, A.S, Rosenthal, Philip, Whitington, Peter F, Pawlowska, Joanna, Thompson, Richard J, Bull, Laura N
• Format: Journal Article
• Language: English
• Published: Kidlington Elsevier B.V 01.07.2010; Elsevier
• Subjects: ABCB11; Adenosine Triphosphatases - deficiency; Adenosine Triphosphatases - genetics; Adolescent; Adult; Age of Onset; ATP binding cassette protein; ATP Binding Cassette Subfamily B Member 11; ATP-Binding Cassette Transporters - genetics; ATP-Binding Cassette Transporters - metabolism; ATP8B1; Bile Acids and Salts - metabolism; Biological and medical sciences; BSEP; Child; Child, Preschool; Cholestasis; Cholestasis, Intrahepatic - diagnosis; Cholestasis, Intrahepatic - genetics; Cholestasis, Intrahepatic - metabolism; Diagnosis, Differential; Disease Progression; Female; FIC1; gamma-Glutamyltransferase - blood; Gastroenterology and Hepatology; Gastroenterology. Liver. Pancreas. Abdomen; Genetics; Humans; Infant; Infant, Newborn; Kaplan-Meier Estimate; Liver. Biliary tract. Portal circulation. Exocrine pancreas; Male; Medical sciences; Medicin och hälsovetenskap; Mutation; Other diseases. Semiology; P-type ATPase; Pediatrics; Phenotype; Pregnancy; Retrospective Studies; Transport protein; Young Adult; Pediatrics; ALP; alanine aminotransferase; ALT; odds ratio; bile acids; OLT; Genetics; alkaline phosphatase; IE; sample size; orthotopic liver transplantation; BSEP; serum aminotransferase activity; benign recurrent intrahepatic cholestasis; FULN; PFIC; partial external biliary diversion; progressive familial intrahepatic cholestasis; bile salt export pump; Transport protein; P-type ATPase; BA; serum bile acids; ATP binding cassette, sub-family B, member 11; gamma-glutamyltranspeptidase; ABCB11; N; PEBD; fold lower limit of normal range; fold upper limit of normal range; WBC; AROC; AST; OR; white blood cell; ATP8B1; ATPase, class I, type 8B, member 1; familial intrahepatic cholestasis 1; sAT; FLLN; γGT; aspartate aminotransferase; FIC1; ATP binding cassette protein; sBA; BRIC; ileal exclusion; area under the ROC (receiver operating characteristic) curve; Cholestasis; Human; Prognosis; Enzyme; Deficiency; Adenosinetriphosphatase; Biliary tract disease; Binding protein; Cholostasis; Gastroenterology; Hydrolases; Digestive diseases; Evolution; ATP; Child

Background & Aims Progressive familial intrahepatic cholestasis (PFIC) with normal serum levels of gamma-glutamyltranspeptidase can result from mutations in ATP8B1 (encoding familial intrahepatic cholestasis 1 [FIC1]) or ABCB11 (encoding bile salt export pump [BSEP]). We evaluated clinical and l...