Failure of cholic acid therapy in a child with a bile acid synthesis defect and harboring plectin mutations

Journal of Pediatric Gastroenterology and NutritionVolume 78, Issue 5 p. 1203-1204 LETTER TO THE EDITOR Failure of cholic acid therapy in a child with a bile acid synthesis defect and harboring plectin mutations Alice Thébaut, Alice Thébaut Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique—Hôpitaux de Paris, Paris-Saclay University, Le Kremlin-Bicêtre, France Inserm U1193, Hepatinov, Paris-Saclay University, Orsay, FranceSearch for more papers by this authorMadeleine Aumar, Madeleine Aumar Pediatric Gastroenterology Unit, Jeanne de Flandre Hospital, Lille University, Lille, FranceSearch for more papers by this authorAntoine Gardin, Antoine Gardin Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique—Hôpitaux de Paris, Paris-Saclay University, Le Kremlin-Bicêtre, France Inserm U1193, Hepatinov, Paris-Saclay University, Orsay, FranceSearch for more papers by this authorMarion Almes, Marion Almes Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique—Hôpitaux de Paris, Paris-Saclay University, Le Kremlin-Bicêtre, France Inserm U1193, Hepatinov, Paris-Saclay University, Orsay, FranceSearch for more papers by this authorAnne Davit-Spraul, Anne Davit-Spraul Inserm U1193, Hepatinov, Paris-Saclay University, Orsay, France Biochemistry Unit, Bicêtre Hospital, Assistance Publique—Hôpitaux de Paris, Paris-Saclay University, Le Kremlin-Bicêtre, FranceSearch for more papers by this authorEmmanuel Jacquemin, Corresponding Author Emmanuel Jacquemin [email protected] orcid.org/0000-0002-7536-6272 Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique—Hôpitaux de Paris, Paris-Saclay University, Le Kremlin-Bicêtre, France Inserm U1193, Hepatinov, Paris-Saclay University, Orsay, France Correspondence Emmanuel Jacquemin, Service d'Hépatologie et de Transplantation Hépatique Pédiatriques, Hôpital Bicêtre, 78, rue du Général Leclerc, Le Kremlin-Bicêtre, 94275 Cedex, France. Email: [email protected]Search for more papers by this author Alice Thébaut, Alice Thébaut Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique—Hôpitaux de Paris, Paris-Saclay University, Le Kremlin-Bicêtre, France Inserm U1193, Hepatinov, Paris-Saclay University, Orsay, FranceSearch for more papers by this authorMadeleine Aumar, Madeleine Aumar Pediatric Gastroenterology Unit, Jeanne de Flandre Hospital, Lille University, Lille, FranceSearch for more papers by this authorAntoine Gardin, Antoine Gardin Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique—Hôpitaux de Paris, Paris-Saclay University, Le Kremlin-Bicêtre, France Inserm U1193, Hepatinov, Paris-Saclay University, Orsay, FranceSearch for more papers by this authorMarion Almes, Marion Almes Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique—Hôpitaux de Paris, Paris-Saclay University, Le Kremlin-Bicêtre, France Inserm U1193, Hepatinov, Paris-Saclay University, Orsay, FranceSearch for more papers by this authorAnne Davit-Spraul, Anne Davit-Spraul Inserm U1193, Hepatinov, Paris-Saclay University, Orsay, France Biochemistry Unit, Bicêtre Hospital, Assistance Publique—Hôpitaux de Paris, Paris-Saclay University, Le Kremlin-Bicêtre, FranceSearch for more papers by this authorEmmanuel Jacquemin, Corresponding Author Emmanuel Jacquemin [email protected] orcid.org/0000-0002-7536-6272 Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique—Hôpitaux de Paris, Paris-Saclay University, Le Kremlin-Bicêtre, France Inserm U1193, Hepatinov, Paris-Saclay University, Orsay, France Correspondence Emmanuel Jacquemin, Service d'Hépatologie et de Transplantation Hépatique Pédiatriques, Hôpital Bicêtre, 78, rue du Général Leclerc, Le Kremlin-Bicêtre, 94275 Cedex, France. Email: [email protected]Search for more papers by this author First published: 01 March 2024 https://doi.org/10.1002/jpn3.12171Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES 1Gonzales E, Matarazzo L, Franchi-Abella S, et al. Cholic acid for primary bile acid synthesis defects: a life-saving therapy allowing a favorable outcome in adulthood. 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Plectin mutations in progressive familial intrahepatic cholestasis. Hepatology. 2019; 70: 2221-2224. 10.1002/hep.30841 PubMedWeb of Science®Google Scholar Volume78, Issue5May 2024Pages 1203-1204 ReferencesRelatedInformation