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

被引:5
作者
Chen, Huayu [1 ]
Wu, Dongbo [1 ]
Jiang, Wei [1 ]
Lei, Ting [1 ]
Lu, Changli [2 ]
Zhou, Taoyou [1 ]
机构
[1] Sichuan Univ, West China Hosp, Ctr Infect Dis, Chengdu, Peoples R China
[2] Sichuan Univ, West China Hosp, Dept Pathol, Chengdu, Peoples R China
基金
中国国家自然科学基金; 中国博士后科学基金;
关键词
intrahepatic cholestasis; BRIC; diagnosis; treatment; case report; ACID;
D O I
10.3389/fmed.2021.705489
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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 c.1817T > C and p.I606T was detected on his ATP8B1gene. The patient was finally diagnosed with BRIC-1. His symptoms were relieved, and liver function tests returned to normal after taking ursodeoxycholic acid. This case provides a different perspective to the methodology employed when dealing with cases of jaundice and helping diagnose rare diseases.
引用
收藏
页数:6
相关论文
共 21 条
  • [1] Drug insight: mechanisms and sites of action of ursodeoxycholic acid in cholestasis
    Beuers, Ulrich
    [J]. NATURE CLINICAL PRACTICE GASTROENTEROLOGY & HEPATOLOGY, 2006, 3 (06): : 318 - 328
  • [2] A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
    Bull, LN
    van Eijk, MJT
    Pawlikowska, L
    DeYoung, JA
    Juijn, JA
    Liao, M
    Klomp, LWJ
    Lomri, N
    Berger, R
    Scharschmidt, BF
    Knisely, AS
    Houwen, RHJ
    Freimer, NB
    [J]. NATURE GENETICS, 1998, 18 (03) : 219 - 224
  • [3] Choudhury Ashok, 2017, BMJ Case Rep, V2017, DOI 10.1136/bcr-2016-218874
  • [4] Tauroursodeoxycholic acid inserts the bile salt export pump into canalicular membranes of cholestatic rat liver
    Dombrowski, F
    Stieger, B
    Beuers, U
    [J]. LABORATORY INVESTIGATION, 2006, 86 (02) : 166 - 174
  • [5] Benign recurrent intrahepatic cholestasis: late initial diagnosis in adulthood
    Ermis, Fatih
    Oncu, Kemal
    Ozel, Melih
    Yazgan, Yusuf
    Gurbuz, Ahmet Kemal
    Demirturk, Levent
    Demirci, Hakan
    Akyol, Taner
    Hahoglu, Aptullah
    [J]. ANNALS OF HEPATOLOGY, 2010, 9 (02) : 207 - 210
  • [6] Benign recurrent intrahepatic cholestasis: review and long-term follow-up of five cases
    Folvik, Geir
    Hilde, Olset
    Helge, Gilja Odd
    [J]. SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY, 2012, 47 (04) : 482 - 488
  • [7] Expanding etiology of progressive familial intrahepatic cholestasis
    Henkel, Sarah A. F.
    Squires, Judy H.
    Ayers, Mary
    Ganoza, Armando
    Mckiernan, Patrick
    Squires, James E.
    [J]. WORLD JOURNAL OF HEPATOLOGY, 2019, 11 (05) : 450 - 463
  • [8] Long-Term Colestyramine Treatment Prevents Cholestatic Attacks in Refractory Benign Recurrent Intrahepatic Cholestasis Type 1 Disease
    Koukoulioti, Eleni
    Ziagaki, Athanasia
    Weber, Susanne N.
    Lammert, Frank
    Berg, Thomas
    [J]. HEPATOLOGY, 2021, 74 (01) : 522 - 524
  • [9] Cholestasis in Benign Recurrent Intrahepatic Cholestasis 2
    Lorio, Eric Arthur
    Valadez, David
    Alkhouri, Naim
    Loo, Nicole
    [J]. ACG CASE REPORTS JOURNAL, 2020, 7 (06)
  • [10] Luketic Velimir A, 2004, Clin Liver Dis, V8, P133