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Chen H, Wu D, Jiang W, et al. Case Report: A Novel Homozygous Variant Identified in a Chinese Patient With Benign Recurrent Intrahepatic Cholestasis-Type 1. Front Med (Lausanne). 2021;8:705489doi: 10.3389/fmed.2021.705489.
Chen, H., Wu, D., Jiang, W., Lei, T., Lu, C., & Zhou, T. (2021). Case Report: A Novel Homozygous Variant Identified in a Chinese Patient With Benign Recurrent Intrahepatic Cholestasis-Type 1. Frontiers in medicine, 8705489. https://doi.org/10.3389/fmed.2021.705489
Chen, Huayu, et al. "Case Report: A Novel Homozygous Variant Identified in a Chinese Patient With Benign Recurrent Intrahepatic Cholestasis-Type 1." Frontiers in medicine vol. 8 (2021): 705489. doi: https://doi.org/10.3389/fmed.2021.705489
Chen H, Wu D, Jiang W, Lei T, Lu C, Zhou T. Case Report: A Novel Homozygous Variant Identified in a Chinese Patient With Benign Recurrent Intrahepatic Cholestasis-Type 1. Front Med (Lausanne). 2021 Aug 18;8:705489. doi: 10.3389/fmed.2021.705489. eCollection 2021. PMID: 34485338; PMCID: PMC8416249.
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Front Med (Lausanne). 2021 Aug 18;8:705489. doi: 10.3389/fmed.2021.705489. eCollection 2021.

Case Report: A Novel Homozygous Variant Identified in a Chinese Patient With Benign Recurrent Intrahepatic Cholestasis-Type 1.

Frontiers in medicine

Huayu Chen, Dongbo Wu, Wei Jiang, Ting Lei, Changli Lu, Taoyou Zhou

Affiliations

  1. Center of Infectious Diseases, West China Hospital, Sichuan University, Chengdu, China.
  2. Department of Pathology, West China Hospital, Sichuan University, Chengdu, China.

PMID: 34485338 PMCID: PMC8416249 DOI: 10.3389/fmed.2021.705489

Abstract

Benign recurrent intrahepatic cholestasis (BRIC) is a rare hereditary cholestatic liver disorder. Accurate diagnosis and timely interventions are important in determining outcomes. Besides clinical and pathologic diagnosis, genetic study of BRIC remains limited. Here, we report a young man enduring recurrent jaundice and severe pruritus for 15 years. The increased level of direct bilirubin was the main biochemical abnormality, and the work-up for common causes of jaundice were unremarkable. Liver biopsy showed extensive cholestasis of hepatocytes in zone 3. The novel homozygous variant including

Copyright © 2021 Chen, Wu, Jiang, Lei, Lu and Zhou.

Keywords: ATP8B1 gene; BRIC; case report; diagnosis; intrahepatic cholestasis; treatment

Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

References

  1. Case Rep Gastrointest Med. 2020 Mar 10;2020:2894293 - PubMed
  2. Can J Gastroenterol Hepatol. 2018 Jul 26;2018:2313675 - PubMed
  3. J Hepatol. 2010 Feb;52(2):258-71 - PubMed
  4. Gastroenterology. 2004 Aug;127(2):379-84 - PubMed
  5. Nat Genet. 1998 Mar;18(3):219-24 - PubMed
  6. J Hepatol. 2002 Mar;36(3):439-43 - PubMed
  7. Ann Hepatol. 2010 Apr-Jun;9(2):207-10 - PubMed
  8. BMJ Case Rep. 2017 May 5;2017: - PubMed
  9. Clin Liver Dis. 2004 Feb;8(1):133-49, vii - PubMed
  10. Scand J Gastroenterol. 2012 Apr;47(4):482-8 - PubMed
  11. Hepatology. 2021 Jul;74(1):522-524 - PubMed
  12. Hepatology. 2006 Jul;44(1):195-204 - PubMed
  13. World J Hepatol. 2020 Feb 27;12(2):64-71 - PubMed
  14. ACG Case Rep J. 2020 Jun 22;7(6):e00412 - PubMed
  15. Nat Clin Pract Gastroenterol Hepatol. 2006 Jun;3(6):318-28 - PubMed
  16. Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):541-53 - PubMed
  17. Lab Invest. 2006 Feb;86(2):166-74 - PubMed
  18. Lancet. 1959 Oct 31;2(7105):686-90 - PubMed
  19. J Clin Exp Hepatol. 2014 Mar;4(1):25-36 - PubMed
  20. World J Gastroenterol. 2017 Feb 7;23(5):763-775 - PubMed
  21. World J Hepatol. 2019 May 27;11(5):450-463 - PubMed

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