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Benign recurrent intrahepatic cholestasis(BRIC)

MedGen UID:
57703
•Concept ID:
C0149841
•
Disease or Syndrome
Synonym: BRIC
SNOMED CT: BRIC - Benign recurrent intrahepatic cholestasis (31155007); Benign recurrent intrahepatic cholestasis (31155007); Benign familial recurrent cholestasis (31155007); Benign recurrent cholestasis (31155007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019008
OMIM® Phenotypic series: PS243300
Orphanet: ORPHA65682

Definition

Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Benign recurrent intrahepatic cholestasis in Orphanet.

Professional guidelines

PubMed

The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies.
Sohail MI, Dönmez-Cakil Y, Szöllősi D, Stockner T, Chiba P
Int J Mol Sci 2021 Jan 14;22(2) doi: 10.3390/ijms22020784. PMID: 33466755Free PMC Article
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
Effect of drug transporter pharmacogenetics on cholestasis.
Dietrich CG, Geier A
Expert Opin Drug Metab Toxicol 2014 Nov;10(11):1533-51. Epub 2014 Sep 26 doi: 10.1517/17425255.2014.963553. PMID: 25260651

Recent clinical studies

Etiology

Cholestasis Due to USP53 Deficiency.
Bull LN, Ellmers R, Foskett P, Strautnieks S, Sambrotta M, Czubkowski P, Jankowska I, Wagner B, Deheragoda M, Thompson RJ
J Pediatr Gastroenterol Nutr 2021 May 1;72(5):667-673. doi: 10.1097/MPG.0000000000002926. PMID: 33075013Free PMC Article
New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications.
Sticova E, Jirsa M, Pawłowska J
Can J Gastroenterol Hepatol 2018;2018:2313675. Epub 2018 Jul 26 doi: 10.1155/2018/2313675. PMID: 30148122Free PMC Article
Current and future therapies for inherited cholestatic liver diseases.
van der Woerd WL, Houwen RH, van de Graaf SF
World J Gastroenterol 2017 Feb 7;23(5):763-775. doi: 10.3748/wjg.v23.i5.763. PMID: 28223721Free PMC Article
Atypical causes of cholestasis.
Nguyen KD, Sundaram V, Ayoub WS
World J Gastroenterol 2014 Jul 28;20(28):9418-26. doi: 10.3748/wjg.v20.i28.9418. PMID: 25071336Free PMC Article
Progressive familial intrahepatic cholestasis.
Cavestro GM, Frulloni L, Cerati E, Ribeiro LA, Corrente V, Sianesi M, Franzè A, Di Mario F
Acta Biomed 2002;73(3-4):53-6. PMID: 12596388

Diagnosis

Triggers of benign recurrent intrahepatic cholestasis and its pathophysiology: a review of literature.
Halawi A, Ibrahim N, Bitar R
Acta Gastroenterol Belg 2021 Jul-Sep;84(3):477-486. doi: 10.51821/84.3.013. PMID: 34599573
Atypical causes of cholestasis.
Nguyen KD, Sundaram V, Ayoub WS
World J Gastroenterol 2014 Jul 28;20(28):9418-26. doi: 10.3748/wjg.v20.i28.9418. PMID: 25071336Free PMC Article
Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis: a review.
Strubbe B, Geerts A, Van Vlierberghe H, Colle I
Acta Gastroenterol Belg 2012 Dec;75(4):405-10. PMID: 23402083
Benign recurrent intrahepatic cholestasis.
Luketic VA, Shiffman ML
Clin Liver Dis 2004 Feb;8(1):133-49, vii. doi: 10.1016/S1089-3261(03)00133-8. PMID: 15062197
Benign recurrent intrahepatic cholestasis.
Luketic VA, Shiffman ML
Clin Liver Dis 1999 Aug;3(3):509-28, viii. doi: 10.1016/s1089-3261(05)70083-0. PMID: 11291237

Therapy

Nasobiliary Drainage for Benign Recurrent Intrahepatic Cholestasis in Patients Refractory to Standard Therapy.
Yakar T, Demir M, Gokturk HS, Unler Kanat AG, Parlakgumus A, Ozer B, Serin E
Clin Invest Med 2016 Dec 1;39(6):27522. PMID: 27917812
Atypical causes of cholestasis.
Nguyen KD, Sundaram V, Ayoub WS
World J Gastroenterol 2014 Jul 28;20(28):9418-26. doi: 10.3748/wjg.v20.i28.9418. PMID: 25071336Free PMC Article
Pruritus in chronic cholestatic liver disease.
Bunchorntavakul C, Reddy KR
Clin Liver Dis 2012 May;16(2):331-46. doi: 10.1016/j.cld.2012.03.010. PMID: 22541702
Benign recurrent intrahepatic cholestasis: review and long-term follow-up of five cases.
Folvik G, Hilde O, Helge GO
Scand J Gastroenterol 2012 Apr;47(4):482-8. Epub 2012 Jan 10 doi: 10.3109/00365521.2011.650191. PMID: 22229830
Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.
van der Woerd WL, van Mil SW, Stapelbroek JM, Klomp LW, van de Graaf SF, Houwen RH
Best Pract Res Clin Gastroenterol 2010 Oct;24(5):541-53. doi: 10.1016/j.bpg.2010.07.010. PMID: 20955958

Prognosis

Improvement of cholestatic episodes in patients with benign recurrent intrahepatic cholestasis (BRIC) treated with rifampicin. A long-term follow-up.
Helgadottir H, Folvik G, Vesterhus M
Scand J Gastroenterol 2023 May;58(5):512-520. Epub 2022 Nov 11 doi: 10.1080/00365521.2022.2143725. PMID: 36369734
Atypical causes of cholestasis.
Nguyen KD, Sundaram V, Ayoub WS
World J Gastroenterol 2014 Jul 28;20(28):9418-26. doi: 10.3748/wjg.v20.i28.9418. PMID: 25071336Free PMC Article
Benign recurrent intrahepatic cholestasis: review and long-term follow-up of five cases.
Folvik G, Hilde O, Helge GO
Scand J Gastroenterol 2012 Apr;47(4):482-8. Epub 2012 Jan 10 doi: 10.3109/00365521.2011.650191. PMID: 22229830
Benign recurrent intrahepatic cholestasis.
Samal SC, Kashyap R, Subrahmanyam DK, Sethuraman KR, Ratnakar C
J Assoc Physicians India 1995 Aug;43(8):569-70. PMID: 8772982
Familial intrahepatic cholestatic syndromes.
Riely CA
Semin Liver Dis 1987 May;7(2):119-33. doi: 10.1055/s-2008-1040571. PMID: 3303344

Clinical prediction guides

Clinical characteristics and genetic profiles of young and adult patients with cholestatic liver disease.
Huynh MT, Nguyen TT, Grison S, Lascols O, Fernandez E, Barbu V
Rev Esp Enferm Dig 2019 Oct;111(10):775-788. doi: 10.17235/reed.2019.6168/2019. PMID: 31538484
Nasobiliary Drainage for Benign Recurrent Intrahepatic Cholestasis in Patients Refractory to Standard Therapy.
Yakar T, Demir M, Gokturk HS, Unler Kanat AG, Parlakgumus A, Ozer B, Serin E
Clin Invest Med 2016 Dec 1;39(6):27522. PMID: 27917812
The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease.
Lam P, Soroka CJ, Boyer JL
Semin Liver Dis 2010 May;30(2):125-33. Epub 2010 Apr 26 doi: 10.1055/s-0030-1253222. PMID: 20422495Free PMC Article
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.
van Mil SW, van der Woerd WL, van der Brugge G, Sturm E, Jansen PL, Bull LN, van den Berg IE, Berger R, Houwen RH, Klomp LW
Gastroenterology 2004 Aug;127(2):379-84. doi: 10.1053/j.gastro.2004.04.065. PMID: 15300568
Benign recurrent intrahepatic cholestasis: treatment with S-adenosylmethionine.
Everson GT, Ahnen D, Harper PC, Krawitt EL
Gastroenterology 1989 May;96(5 Pt 1):1354-7. doi: 10.1016/s0016-5085(89)80024-1. PMID: 2703120

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