Differences in presentation and progression between severe FIC1 and BSEP deficiencies
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...
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| Published in | Journal of hepatology Vol. 53; no. 1; pp. 170 - 178 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Kidlington
Elsevier B.V
01.07.2010
Elsevier |
| Subjects | |
| Online Access | Get full text |
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| Abstract | 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 laboratory features of disease in patients diagnosed with PFIC, who carried mutations in ATP8B1 (FIC1 deficiency) or ABCB11 (BSEP deficiency). Our goal was to identify features that distinguish presentation and course of these two disorders, thus facilitating diagnosis and elucidating the differing consequences of ATP8B1 and ABCB11 mutations. Methods A retrospective multi-center study was conducted, using questionnaires and chart review. Available clinical and biochemical data from 145 PFIC patients with mutations in either ATP8B1 (61 “FIC1 patients”) or ABCB11 (84 “BSEP patients”) were evaluated. Results At presentation, serum aminotransferase and bile salt levels were higher in BSEP patients; serum alkaline phosphatase values were higher, and serum albumin values were lower, in FIC1 patients. Elevated white blood cell counts, and giant or multinucleate cells at liver biopsy, were more common in BSEP patients. BSEP patients more often had gallstones and portal hypertension. Diarrhea, pancreatic disease, rickets, pneumonia, abnormal sweat tests, hearing impairment, and poor growth were more common in FIC1 patients. Among BSEP patients, the course of disease was less rapidly progressive in patients bearing the D482G mutation. Conclusions Severe forms of FIC1 and BSEP deficiency differed. BSEP patients manifested more severe hepatobiliary disease, while FIC1 patients showed greater evidence of extrahepatic disease. |
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| AbstractList | 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 laboratory features of disease in patients diagnosed with PFIC, who carried mutations in ATP8B1 (FIC1 deficiency) or ABCB11 (BSEP deficiency). Our goal was to identify features that distinguish presentation and course of these two disorders, thus facilitating diagnosis and elucidating the differing consequences of ATP8B1 and ABCB11 mutations.
A retrospective multi-center study was conducted, using questionnaires and chart review. Available clinical and biochemical data from 145 PFIC patients with mutations in either ATP8B1 (61 "FIC1 patients") or ABCB11 (84 "BSEP patients") were evaluated.
At presentation, serum aminotransferase and bile salt levels were higher in BSEP patients; serum alkaline phosphatase values were higher, and serum albumin values were lower, in FIC1 patients. Elevated white blood cell counts, and giant or multinucleate cells at liver biopsy, were more common in BSEP patients. BSEP patients more often had gallstones and portal hypertension. Diarrhea, pancreatic disease, rickets, pneumonia, abnormal sweat tests, hearing impairment, and poor growth were more common in FIC1 patients. Among BSEP patients, the course of disease was less rapidly progressive in patients bearing the D482G mutation.
Severe forms of FIC1 and BSEP deficiency differed. BSEP patients manifested more severe hepatobiliary disease, while FIC1 patients showed greater evidence of extrahepatic disease. 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 laboratory features of disease in patients diagnosed with PFIC, who carried mutations in ATP8B1 (FIC1 deficiency) or ABCB11 (BSEP deficiency). Our goal was to identify features that distinguish presentation and course of these two disorders, thus facilitating diagnosis and elucidating the differing consequences of ATP8B1 and ABCB11 mutations. Methods A retrospective multi-center study was conducted, using questionnaires and chart review. Available clinical and biochemical data from 145 PFIC patients with mutations in either ATP8B1 (61 “FIC1 patients”) or ABCB11 (84 “BSEP patients”) were evaluated. Results At presentation, serum aminotransferase and bile salt levels were higher in BSEP patients; serum alkaline phosphatase values were higher, and serum albumin values were lower, in FIC1 patients. Elevated white blood cell counts, and giant or multinucleate cells at liver biopsy, were more common in BSEP patients. BSEP patients more often had gallstones and portal hypertension. Diarrhea, pancreatic disease, rickets, pneumonia, abnormal sweat tests, hearing impairment, and poor growth were more common in FIC1 patients. Among BSEP patients, the course of disease was less rapidly progressive in patients bearing the D482G mutation. Conclusions Severe forms of FIC1 and BSEP deficiency differed. BSEP patients manifested more severe hepatobiliary disease, while FIC1 patients showed greater evidence of extrahepatic disease. BACKGROUND & AIMSProgressive 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 laboratory features of disease in patients diagnosed with PFIC, who carried mutations in ATP8B1 (FIC1 deficiency) or ABCB11 (BSEP deficiency). Our goal was to identify features that distinguish presentation and course of these two disorders, thus facilitating diagnosis and elucidating the differing consequences of ATP8B1 and ABCB11 mutations. METHODSA retrospective multi-center study was conducted, using questionnaires and chart review. Available clinical and biochemical data from 145 PFIC patients with mutations in either ATP8B1 (61 "FIC1 patients") or ABCB11 (84 "BSEP patients") were evaluated. RESULTSAt presentation, serum aminotransferase and bile salt levels were higher in BSEP patients; serum alkaline phosphatase values were higher, and serum albumin values were lower, in FIC1 patients. Elevated white blood cell counts, and giant or multinucleate cells at liver biopsy, were more common in BSEP patients. BSEP patients more often had gallstones and portal hypertension. Diarrhea, pancreatic disease, rickets, pneumonia, abnormal sweat tests, hearing impairment, and poor growth were more common in FIC1 patients. Among BSEP patients, the course of disease was less rapidly progressive in patients bearing the D482G mutation. CONCLUSIONSSevere forms of FIC1 and BSEP deficiency differed. BSEP patients manifested more severe hepatobiliary disease, while FIC1 patients showed greater evidence of extrahepatic disease. |
| Author | Whitington, Peter F Pawlowska, Joanna Czubkowski, Piotr Byrne, Jane A Kolho, Kaija-Leena Hupertz, Vera Freimer, Nelson B Jankowska, Irena Bull, Laura N Blanchard, Samra Strautnieks, Sandra McQuaid, Shirley Klomp, Leo Bacchetti, Peter Emerick, Karan Wanty, Catherine Fischler, Bjorn McClean, Patricia Rosenthal, Philip Bourke, Billy Jacquemin, Emmanuel Mieli-Vergani, Giorgina Shneider, Benjamin Pawlikowska, Ludmila Antoniou, Anthony Lacaille, Florence Wali, Sami van Eerde, Albertien M Nielsen, Inge-Merete Nemeth, Antal Knisely, A.S Houwen, Roderick Sokal, Etienne Lobritto, Steven Thompson, Richard J |
| AuthorAffiliation | 11 Department of Pediatric Gastroenterology, University of Maryland, College Park, MD 26 Laboratory of Pediatric Hepatology and Cell Therapy, Université Catholique de Louvain & Cliniques St Luc, Brussels, Belgium 25 Pediatric Gastroenterology, Hepatology, and Nutrition, Astrid Lindgren’s Children’s Hospital, Huddinge, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden 29 Department of Pediatrics, University of California, San Francisco, San Francisco, CA 20 Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA 7 Pediatric Gastro-Enterology, Cliniques Universitaires Saint-Luc, Brussels, Belgium 14 National Centre for Medical Genetics, Our Lady’s Children’s Hospital, Dublin, Ireland 6 Institute of Cancer Research, Imperial College, London, UK 16 Department of Medical Genetics, University Medical Center Utrecht, The Netherlands 24 Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children’s Hospital of Pitt |
| AuthorAffiliation_xml | – name: 22 Department of Pediatric Gastroenterology, Hepatology and Nutrition, Cleveland Clinic Foundation, Cleveland, OH – name: 9 Hépatologie Pédiatrique, CHU Bicêtre, Assistance Publique-Hôpitaux de Paris and INSERM U757, University of Paris Sud 11, Paris, France – name: 25 Pediatric Gastroenterology, Hepatology, and Nutrition, Astrid Lindgren’s Children’s Hospital, Huddinge, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden – name: 2 Institute for Human Genetics, University of California, San Francisco, San Francisco, CA – name: 6 Institute of Cancer Research, Imperial College, London, UK – name: 28 Institute of Liver Studies, King’s College Hospital, London, UK – name: 17 Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland – name: 13 Children’s Research Center, Our Lady’s Children’s Hospital, Conway Institute, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland – name: 20 Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA – name: 1 Department of Anesthesia and Perioperative Care, University of California, San Francisco, San Francisco, CA – name: 16 Department of Medical Genetics, University Medical Center Utrecht, The Netherlands – name: 30 Department of Pediatrics, Northwestern University Feinberg School of Medicine, Children’s Memorial Hospital, Chicago, IL – name: 21 Center for Liver Disease and Transplantation, Columbia University, New York, NY – name: 12 Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark – name: 14 National Centre for Medical Genetics, Our Lady’s Children’s Hospital, Dublin, Ireland – name: 4 Department of Gastroenterology, Hepatology, and Immunology, Children’s Memorial Health Institute, Warsaw, Poland – name: 8 Department of Pediatrics, Karolinska University Hospital, Huddinge, CLINTEC, Sweden – name: 10 Department of Pediatrics, Riyadh Armed Forces Hospital, Riyadh, Saudi Arabia – name: 19 Department of Pediatric Gastroenterology, University Medical Center Utrecht, Utrecht, The Netherlands – name: 26 Laboratory of Pediatric Hepatology and Cell Therapy, Université Catholique de Louvain & Cliniques St Luc, Brussels, Belgium – name: 31 Liver Center Laboratory, University of California, San Francisco, San Francisco, CA – name: 11 Department of Pediatric Gastroenterology, University of Maryland, College Park, MD – name: 3 Institute of Liver Studies, King’s College London School of Medicine, London, UK – name: 29 Department of Pediatrics, University of California, San Francisco, San Francisco, CA – name: 15 Department of Pediatrics, Hôpital Necker-Enfants Malades, Paris, France – name: 24 Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children’s Hospital of Pittsburgh of UPMC, Pittsburgh, PA – name: 27 Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, Los Angeles, CA – name: 18 Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, and Netherlands Metabolomics Center, Utrecht, The Netherlands – name: 23 Children’s Liver and Gastroenterology Unit, St. James’ University Hospital, Leeds, UK – name: 5 Department of Pediatrics, University of Connecticut, Hartford, CT – name: 7 Pediatric Gastro-Enterology, Cliniques Universitaires Saint-Luc, Brussels, Belgium |
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| BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=23025985$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/20447715$$D View this record in MEDLINE/PubMed http://kipublications.ki.se/Default.aspx?queryparsed=id:120966034$$DView record from Swedish Publication Index |
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| Copyright | European Association for the Study of the Liver 2010 European Association for the Study of the Liver 2015 INIST-CNRS Copyright 2010 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved. 2009 Published by Elsevier B.V. on behalf of European Association of the Study of the Liver. 2009 |
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| Keywords | 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 |
| Language | English |
| License | CC BY 4.0 Copyright 2010 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved. https://www.elsevier.com/tdm/userlicense/1.0 |
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| Snippet | Background & Aims Progressive familial intrahepatic cholestasis (PFIC) with normal serum levels of gamma-glutamyltranspeptidase can result from mutations in... Progressive familial intrahepatic cholestasis (PFIC) with normal serum levels of gamma-glutamyltranspeptidase can result from mutations in ATP8B1 (encoding... BACKGROUND & AIMSProgressive familial intrahepatic cholestasis (PFIC) with normal serum levels of gamma-glutamyltranspeptidase can result from mutations in... |
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| SubjectTerms | 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 |
| Title | Differences in presentation and progression between severe FIC1 and BSEP deficiencies |
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