European Journal of Human Genetics - Clinical utility gene card for: progressive familial intrahepatic cholestasis type 2

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European Journal of Human Genetics - Clinical utility gene card for: progressive familial intrahepatic cholestasis type 2

Clinical Utility Gene Card

European Journal of Human Genetics advance online publication 28 August 2013; doi: 10.1038/ejhg.2013.187

Clinical utility gene card for: progressive familial intrahepatic cholestasis type 2

Emmanuel Gonzales^1,2, Anne Spraul³ and Emmanuel Jacquemin^1,2

1. ¹INSERM, UMR-S757, University of Paris-Sud 11, Orsay, France
2. ²Pediatric Hepatology and Liver transplantation Unit, National Reference Centre for Rare Pediatric Liver Diseases, Bicêtre Universitary Hospital, Faculty of Medicine Paris–Sud, University of Paris-Sud 11, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France
3. ³Biochemistry Unit, Bicêtre Universitary Hospital, Faculty of Medicine Paris–Sud, University of Paris-Sud 11, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France

Correspondence: Professor E Jacquemin, Service d'hépatologie et de transplantation hépatique pédiatriques, CHU Bicêtre, 77 rue du Général Leclerc, Le Kremlin-Bicêtre 94275, France. Tel: +33 145213164; Fax: +33 145212816; E-mail: emmanuel.jacquemin@bct.aphp.fr

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1. Disease characteristics

1.1 Name of the disease (synonyms)

1. Progressive familial intrahepatic cholestasis type 2 (PFIC2).

2. Bile salt export pump (BSEP) deficiency.

3. Initially reported under the name Byler syndrome.

Byler syndrome refers to normal gamma-glutamyltransferase (GGT) level chronic intrahepatic cholestasis observed in children usually during the first year of life.¹ Later, PFIC1 (Byler disease)² and PFIC2³ were identified. The terms PFIC2 or BSEP deficiency should be used preferentially.