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Familial intrahepatic cholestasis

MedGen UID:
980744
•Concept ID:
CN296401
•
Disease or Syndrome
Synonyms: familial intrahepatic cholestasis; hereditary intrahepatic cholestasis
 
Monarch Initiative: MONDO:0017290
Orphanet: ORPHA284385

Definition

An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome. [from MONDO]

Professional guidelines

PubMed

Treatment of Cholestasis in Infants and Young Children.
Heinz N, Vittorio J
Curr Gastroenterol Rep 2023 Nov;25(11):344-354. Epub 2023 Aug 31 doi: 10.1007/s11894-023-00891-8. PMID: 37651067
Recent developments in diagnostics and treatment of neonatal cholestasis.
Feldman AG, Sokol RJ
Semin Pediatr Surg 2020 Aug;29(4):150945. Epub 2020 Jul 23 doi: 10.1016/j.sempedsurg.2020.150945. PMID: 32861449Free PMC Article
Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases.
Chen HL, Wu SH, Hsu SH, Liou BY, Chen HL, Chang MH
J Biomed Sci 2018 Oct 26;25(1):75. doi: 10.1186/s12929-018-0475-8. PMID: 30367658Free PMC Article

Recent clinical studies

Etiology

Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review.
Jones-Hughes T, Campbell J, Crathorne L
Orphanet J Rare Dis 2021 Jun 3;16(1):255. doi: 10.1186/s13023-021-01884-4. PMID: 34082807Free PMC Article
Molecular overview of progressive familial intrahepatic cholestasis.
Amirneni S, Haep N, Gad MA, Soto-Gutierrez A, Squires JE, Florentino RM
World J Gastroenterol 2020 Dec 21;26(47):7470-7484. doi: 10.3748/wjg.v26.i47.7470. PMID: 33384548Free PMC Article
Recent developments in diagnostics and treatment of neonatal cholestasis.
Feldman AG, Sokol RJ
Semin Pediatr Surg 2020 Aug;29(4):150945. Epub 2020 Jul 23 doi: 10.1016/j.sempedsurg.2020.150945. PMID: 32861449Free PMC Article
Systematic review of progressive familial intrahepatic cholestasis.
Baker A, Kerkar N, Todorova L, Kamath BM, Houwen RHJ
Clin Res Hepatol Gastroenterol 2019 Feb;43(1):20-36. Epub 2018 Sep 17 doi: 10.1016/j.clinre.2018.07.010. PMID: 30236549
Pediatric hepatocellular carcinoma.
Khanna R, Verma SK
World J Gastroenterol 2018 Sep 21;24(35):3980-3999. doi: 10.3748/wjg.v24.i35.3980. PMID: 30254403Free PMC Article

Diagnosis

Treatment of Cholestasis in Infants and Young Children.
Heinz N, Vittorio J
Curr Gastroenterol Rep 2023 Nov;25(11):344-354. Epub 2023 Aug 31 doi: 10.1007/s11894-023-00891-8. PMID: 37651067
Recent developments in diagnostics and treatment of neonatal cholestasis.
Feldman AG, Sokol RJ
Semin Pediatr Surg 2020 Aug;29(4):150945. Epub 2020 Jul 23 doi: 10.1016/j.sempedsurg.2020.150945. PMID: 32861449Free PMC Article
Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases.
Chen HL, Wu SH, Hsu SH, Liou BY, Chen HL, Chang MH
J Biomed Sci 2018 Oct 26;25(1):75. doi: 10.1186/s12929-018-0475-8. PMID: 30367658Free PMC Article
Progressive Familial Intrahepatic Cholestasis.
Bull LN, Thompson RJ
Clin Liver Dis 2018 Nov;22(4):657-669. Epub 2018 Aug 3 doi: 10.1016/j.cld.2018.06.003. PMID: 30266155
Genetic Testing in Liver Disease: What to Order, in Whom, and When.
Schonfeld EA, Brown RS Jr
Clin Liver Dis 2017 Nov;21(4):673-686. Epub 2017 Jul 29 doi: 10.1016/j.cld.2017.06.001. PMID: 28987255

Therapy

Maralixibat: First Approval.
Shirley M
Drugs 2022 Jan;82(1):71-76. doi: 10.1007/s40265-021-01649-0. PMID: 34813049Free PMC Article
Odevixibat: First Approval.
Deeks ED
Drugs 2021 Oct;81(15):1781-1786. doi: 10.1007/s40265-021-01594-y. PMID: 34499340Free PMC Article
Variants in ABCB4 (MDR3) across the spectrum of cholestatic liver diseases in adults.
Stättermayer AF, Halilbasic E, Wrba F, Ferenci P, Trauner M
J Hepatol 2020 Sep;73(3):651-663. Epub 2020 May 4 doi: 10.1016/j.jhep.2020.04.036. PMID: 32376413
Systematic review of progressive familial intrahepatic cholestasis.
Baker A, Kerkar N, Todorova L, Kamath BM, Houwen RHJ
Clin Res Hepatol Gastroenterol 2019 Feb;43(1):20-36. Epub 2018 Sep 17 doi: 10.1016/j.clinre.2018.07.010. PMID: 30236549
Pediatric hepatocellular carcinoma.
Khanna R, Verma SK
World J Gastroenterol 2018 Sep 21;24(35):3980-3999. doi: 10.3748/wjg.v24.i35.3980. PMID: 30254403Free PMC Article

Prognosis

Paediatric research sets new standards for therapy in paediatric and adult cholestasis.
Jeyaraj R, Maher ER, Kelly D
Lancet Child Adolesc Health 2024 Jan;8(1):75-84. Epub 2023 Nov 22 doi: 10.1016/S2352-4642(23)00259-6. PMID: 38006895
Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review.
Jones-Hughes T, Campbell J, Crathorne L
Orphanet J Rare Dis 2021 Jun 3;16(1):255. doi: 10.1186/s13023-021-01884-4. PMID: 34082807Free PMC Article
Concomitant congenital CMV infection and inherited liver diseases.
Swed-Tobia R, Kassis I, Weiss K, Tal G, Shaoul R, Falik-Zaccai TC, Mandel H, Meir M
Eur J Med Genet 2021 Aug;64(8):104249. Epub 2021 May 20 doi: 10.1016/j.ejmg.2021.104249. PMID: 34023521
Systematic review of progressive familial intrahepatic cholestasis.
Baker A, Kerkar N, Todorova L, Kamath BM, Houwen RHJ
Clin Res Hepatol Gastroenterol 2019 Feb;43(1):20-36. Epub 2018 Sep 17 doi: 10.1016/j.clinre.2018.07.010. PMID: 30236549
Pediatric hepatocellular carcinoma.
Khanna R, Verma SK
World J Gastroenterol 2018 Sep 21;24(35):3980-3999. doi: 10.3748/wjg.v24.i35.3980. PMID: 30254403Free PMC Article

Clinical prediction guides

Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.
Thompson RJ, Arnell H, Artan R, Baumann U, Calvo PL, Czubkowski P, Dalgic B, D'Antiga L, Durmaz Ö, Fischler B, Gonzalès E, Grammatikopoulos T, Gupte G, Hardikar W, Houwen RHJ, Kamath BM, Karpen SJ, Kjems L, Lacaille F, Lachaux A, Lainka E, Mack CL, Mattsson JP, McKiernan P, Özen H, Rajwal SR, Roquelaure B, Shagrani M, Shteyer E, Soufi N, Sturm E, Tessier ME, Verkade HJ, Horn P
Lancet Gastroenterol Hepatol 2022 Sep;7(9):830-842. Epub 2022 Jul 1 doi: 10.1016/S2468-1253(22)00093-0. PMID: 35780807
Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review.
Jones-Hughes T, Campbell J, Crathorne L
Orphanet J Rare Dis 2021 Jun 3;16(1):255. doi: 10.1186/s13023-021-01884-4. PMID: 34082807Free PMC Article
Modeling Human Bile Acid Transport and Synthesis in Stem Cell-Derived Hepatocytes with a Patient-Specific Mutation.
Hayashi H, Osaka S, Sakabe K, Fukami A, Kishimoto E, Aihara E, Sabu Y, Mizutani A, Kusuhara H, Naritaka N, Zhang W, Huppert SS, Sakabe M, Nakamura T, Hu YC, Mayhew C, Setchell K, Takebe T, Asai A
Stem Cell Reports 2021 Feb 9;16(2):309-323. Epub 2021 Jan 14 doi: 10.1016/j.stemcr.2020.12.008. PMID: 33450190Free PMC Article
Prognostic roles of tetrahydroxy bile acids in infantile intrahepatic cholestasis.
Lee CS, Kimura A, Wu JF, Ni YH, Hsu HY, Chang MH, Nittono H, Chen HL
J Lipid Res 2017 Mar;58(3):607-614. Epub 2017 Jan 10 doi: 10.1194/jlr.P070425. PMID: 28073941Free PMC Article
ATP8B1 and ATP11C: Two Lipid Flippases Important for Hepatocyte Function.
Naik J, de Waart DR, Utsunomiya K, Duijst S, Mok KH, Oude Elferink RP, Bosma PJ, Paulusma CC
Dig Dis 2015;33(3):314-8. Epub 2015 May 27 doi: 10.1159/000371665. PMID: 26045263

Recent systematic reviews

Management and outcomes after liver transplantation for progressive familial intrahepatic cholestasis: A systematic review and meta-analysis.
Kavallar AM, Mayerhofer C, Aldrian D, Okamoto T, Müller T, Vogel GF
Hepatol Commun 2023 Oct 1;7(10) Epub 2023 Sep 27 doi: 10.1097/HC9.0000000000000286. PMID: 37756114Free PMC Article
Biliary diversion in progressive familial intrahepatic cholestasis: a systematic review and meta-analysis.
Bolia R, Goel AD, Sharma V, Srivastava A
Expert Rev Gastroenterol Hepatol 2022 Feb;16(2):163-172. Epub 2022 Feb 15 doi: 10.1080/17474124.2022.2032660. PMID: 35051344
Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review.
Jones-Hughes T, Campbell J, Crathorne L
Orphanet J Rare Dis 2021 Jun 3;16(1):255. doi: 10.1186/s13023-021-01884-4. PMID: 34082807Free PMC Article
Systematic Review and Meta-analysis: Partial External Biliary Diversion in Progressive Familial Intrahepatic Cholestasis.
Verkade HJ, Thompson RJ, Arnell H, Fischler B, Gillberg PG, Mattsson JP, Torfgård K, Lindström E
J Pediatr Gastroenterol Nutr 2020 Aug;71(2):176-183. doi: 10.1097/MPG.0000000000002789. PMID: 32433433
Systematic review of progressive familial intrahepatic cholestasis.
Baker A, Kerkar N, Todorova L, Kamath BM, Houwen RHJ
Clin Res Hepatol Gastroenterol 2019 Feb;43(1):20-36. Epub 2018 Sep 17 doi: 10.1016/j.clinre.2018.07.010. PMID: 30236549

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