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Review

Progressive familial intrahepatic cholestasis: diagnosis, management, and treatment

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Pages 95-104 | Published online: 10 Sep 2018

Keep up to date with the latest research on this topic with citation updates for this article.

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Leilei Yu, Yaru Liu, Shunhe Wang, Qingsong Zhang, Jianxin Zhao, Hao Zhang, Arjan Narbad, Fengwei Tian, Qixiao Zhai & Wei Chen. (2023) Cholestasis: exploring the triangular relationship of gut microbiota-bile acid-cholestasis and the potential probiotic strategies. Gut Microbes 15:1.
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Leila Jafaripour, Behzad Sohrabi Zadeh, Elham Jafaripour, Hassan Ahmadvand & Majid Asadi-Shekaari. (2023) Gallic acid improves liver cirrhosis by reducing oxidative stress and fibrogenesis in the liver of rats induced by bile duct ligation. Scandinavian Journal of Gastroenterology 58:12, pages 1474-1483.
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Leonardo Ruiz-Casas, Sonia O’Hara, Claudia Mighiu, Alan Finnegan, Alison Taylor, Emily Ventura, Anil Dhawan, Karen F Murray, Jorn Schattenberg, Jose Willemse, Melanie Karakaidos & Harpreet Brrang. (2021) Burden of illness of progressive familial intrahepatic cholestasis in the US, UK, France, and Germany: study rationale and protocol of the PICTURE study. Expert Review of Pharmacoeconomics & Outcomes Research 21:2, pages 247-253.
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Articles from other publishers (26)

Richard J. Thompson, Reha Artan, Ulrich Baumann, Pier Luigi Calvo, Piotr Czubkowski, Buket Dalgic, Lorenzo D’Antiga, Angelo Di Giorgio, Özlem Durmaz, Emmanuel Gonzalès, Tassos Grammatikopoulos, Girish Gupte, Winita Hardikar, Roderick H.J. Houwen, Binita M. Kamath, Saul J. Karpen, Florence Lacaille, Alain Lachaux, Elke Lainka, Kathleen M. Loomes, Cara L. Mack, Jan P. Mattsson, Patrick McKiernan, Quanhong Ni, Hasan Özen, Sanjay R. Rajwal, Bertrand Roquelaure, Eyal Shteyer, Etienne Sokal, Ronald J. Sokol, Nisreen Soufi, Ekkehard Sturm, Mary Elizabeth Tessier, Wendy L. van der Woerd, Henkjan J. Verkade, Jennifer M. Vittorio, Terese Wallefors, Natalie Warholic, Qifeng Yu, Patrick Horn & Lise Kjems. (2023) Interim results from an ongoing, open-label, single-arm trial of odevixibat in progressive familial intrahepatic cholestasis. JHEP Reports, pages 100782.
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Mohammad Badr Almoshantaf, Suja Alasaad, Mhd Amin Alzabibi, Mosa Shibani & Weaam Ezzdean. (2023) Type 3 of progressive familial intrahepatic cholestasis ( PFIC ‐3): Case report . Clinical Case Reports 11:4.
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Jonathan M. Moore, Eric L. Bell, Robert O. Hughes & Alastair S. Garfield. (2023) ABC transporters: human disease and pharmacotherapeutic potential. Trends in Molecular Medicine 29:2, pages 152-172.
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Mina Yazdizadeh, Maryam Sharifi, Arefeh Torabi Parizi, Firoozeh Alipour, Maryam Ghasempuor, Elham Zanguei & Maryam Yazdizadeh. (2023) Dental management of a pediatric patient with progressive familial intrahepatic cholestasis having dental anomalies: a case report and brief review of the literature. BMC Oral Health 23:1.
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Badriah G Alasmari, Syed Rayees, Mohammed Alomari, Lina Elzubair & Yassin Hamid. (2022) Progressive Familial Intrahepatic Cholestasis Type 3 Homozygous Pathogenic Variant c.2906G>A in the ATP Binding Cassette Subfamily B Member 4 (ABCB4) Gene: A Case Report of an Unusual Presentation. Cureus.
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Jinlin Cheng, Ling Gong, Xiaoxiao Mi, Xiangyan Wu, Jun Zheng & Wenjun Yang. (2022) Case series of progressive familial intrahepatic cholestasis type 3: Characterization of variants in ABCB4 in China. Frontiers in Medicine 9.
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Chad Gwaltney, Cristina Ivanescu, Lisa Karlsson, Natalie Warholic, Lise Kjems & Patrick Horn. (2022) Validation of the PRUCISION Instruments in Pediatric Patients with Progressive Familial Intrahepatic Cholestasis. Advances in Therapy 39:11, pages 5105-5125.
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Hao Zhu, Shengnan Wang, Li Li, Wenqian Geng, Xiaoqiang Wan, Rui Hua, Dong Wang & Pujun Gao. (2022) Case Report: A rare case of young adult progressive familial intrahepatic cholestasis-type 3 with a novel heterozygous pathogenic variant of ABCB4. Frontiers in Pediatrics 10.
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Richard J Thompson, Henrik Arnell, Reha Artan, Ulrich Baumann, Pier Luigi Calvo, Piotr Czubkowski, Buket Dalgic, Lorenzo D'Antiga, Özlem Durmaz, Björn Fischler, Emmanuel Gonzalès, Tassos Grammatikopoulos, Girish Gupte, Winita Hardikar, Roderick H J Houwen, Binita M Kamath, Saul J Karpen, Lise Kjems, Florence Lacaille, Alain Lachaux, Elke Lainka, Cara L Mack, Jan P Mattsson, Patrick McKiernan, Hasan Özen, Sanjay R Rajwal, Bertrand Roquelaure, Mohammad Shagrani, Eyal Shteyer, Nisreen Soufi, Ekkehard Sturm, Mary Elizabeth Tessier, Henkjan J Verkade & Patrick Horn. (2022) Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial. The Lancet Gastroenterology & Hepatology 7:9, pages 830-842.
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Kathleen M. Loomes, Robert H. Squires, Deirdre Kelly, Sanjay Rajwal, Nisreen Soufi, Alain Lachaux, Irena Jankowska, Cara Mack, Kenneth D. R. Setchell, Palaniswamy Karthikeyan, Ciara Kennedy, Alejandro Dorenbaum, Nirav K. Desai, Will Garner, Thomas Jaecklin, Pamela Vig, Alexander Miethke & Richard J. Thompson. (2022) Maralixibat for the treatment of PFIC : Long‐term , IBAT inhibition in an open‐label , Phase 2 study . Hepatology Communications 6:9, pages 2379-2390.
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Chenyue Hang, Yijie Jin, Yi Luo, Mingxuan Feng, Tao Zhou, Jianjun Zhu, Jianjun Zhang, Yuan Liu & Qiang Xia. (2022) Long-Term Results of Pediatric Liver Transplantation for Progressive Familial Intrahepatic Cholestasis. Journal of Clinical Medicine 11:16, pages 4684.
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Gondo MastutikNila KurniasariAlphania RahniayuAnny Setijo RahajuS. Eriaty N. RuslanKhafidhotul IlmiahBagus SetyoboediErna Sulistyani. (2022) Detection of Cytomegalovirus in Urine Specimen of Cholestatic Infants by Polymerase Chain Reaction. Research Journal of Pharmacy and Technology, pages 2151-2157.
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Lillian Garrett, Patricia Da Silva-Buttkus, Birgit Rathkolb, Raffaele Gerlini, Lore Becker, Adrian Sanz-Moreno, Claudia Seisenberger, Annemarie Zimprich, Antonio Aguilar-Pimentel, Oana V. Amarie, Yi-Li Cho, Markus Kraiger, Nadine Spielmann, Julia Calzada-Wack, Susan Marschall, Dirk Busch, Carsten Schmitt-Weber, Eckhard Wolf, Wolfgang Wurst, Helmut Fuchs, Valerie Gailus-Durner, Sabine M. Hölter & Martin Hrabě de Angelis. (2022) Post-synaptic scaffold protein TANC2 in psychiatric and somatic disease risk. Disease Models & Mechanisms 15:3.
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Tian-Fu Liu, Jing-Jing He, Liang Wang & Ling-Yi Zhang. (2022) Novel ABCB4 mutations in an infertile female with progressive familial intrahepatic cholestasis type 3: A case report . World Journal of Clinical Cases 10:6, pages 1998-2006.
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Naoki Tanimizu. (2022) The neonatal liver: Normal development and response to injury and disease. Seminars in Fetal and Neonatal Medicine 27:1, pages 101229.
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Tracey Jones-Hughes, Jo Campbell & Louise Crathorne. (2021) Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review. Orphanet Journal of Rare Diseases 16:1.
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Fatma İlknur Varol, Mukadder Ayşe Selimoğlu, Şükrü Güngör, Sezai Yılmaz & İbrahim Tekedereli. (2021) Single-center experience in management of progressive familial intrahepatic cholestasis. Arab Journal of Gastroenterology 22:4, pages 310-315.
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William A. Murphy, Chitra Saran, Paavo Honkakoski & Kim L.R. Brouwer. 2021. Transporters and Drug‐Metabolizing Enzymes in Drug Toxicity. Transporters and Drug‐Metabolizing Enzymes in Drug Toxicity 261 306 .
Sarah Alzebaidi, Yara Alghamdi, Amal Alghamdi, Mohammed Hasosah & Emad Alsharef. (2020) Progressive Familial Intrahepatic Cholestasis Type 1 Associated with Cherry-Red Spots in an Infant: A First Case Report. Cureus.
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R. C. Siriwardana, D. S. P. Jayatunge, C. S. Ekanayake, S. Tilakaratne, M. A. Niriella, B. Gunathilake & A. S. Dassanayake. (2020) Internal biliary diversion to avoid liver transplantation in an adult with intractable pruritus due to idiopathic intrahepatic cholestasis. Egyptian Liver Journal 10:1.
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Hamid Reza Foroutan, Ali Bahador, Sultan Mohsin Ghanim, Seyed Mohsen Dehghani, Mohammad Hossein Anbardar, Mohammad Reza Fattahi, Mehdi Forooghi, Omidreza Azh, Ali Tadayon, Alireza Sherafat, Amir Arsalan Yaghoobi & Mohammad Ali Ashraf. (2020) Effects of partial internal biliary diversion on long-term outcomes in patients with progressive familial intrahepatic cholestasis: experience in 44 patients. Pediatric Surgery International 36:5, pages 603-610.
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Peter L. Labib, George Goodchild & Stephen P. Pereira. (2019) Molecular Pathogenesis of Cholangiocarcinoma. BMC Cancer 19:1.
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. (2019) La cholestase chronique progressive fibrosante de type 3 (PFIC3) - De quoi s’agit-il ?. Hegel N° 4:4, pages 366-367.
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Nerea Zabaleta, Mirja Hommel, David Salas & Gloria Gonzalez-Aseguinolaza. (2019) Genetic-Based Approaches to Inherited Metabolic Liver Diseases. Human Gene Therapy 30:10, pages 1190-1203.
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Mithat Gunaydin & Asudan Tugce Bozkurter Cil. (2019) Cholestasis in the Baby and Infant. European Medical Journal, pages 73-82.
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Ben-Ping Zhang, Zhi-Hua Huang & Chen Dong. (2019) Biliary atresia combined with progressive familial intrahepatic cholestasis type 3. Medicine 98:19, pages e15593.
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