Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jul 16, 2023; 11(20): 4903-4911
Published online Jul 16, 2023. doi: 10.12998/wjcc.v11.i20.4903
ABCB4 gene mutation-associated cirrhosis with systemic amyloidosis: A case report
Na Cheng, Yu-Jie Qin, Quan Zhang, Hong Li
Na Cheng, Yu-Jie Qin, Quan Zhang, Hong Li, Department of Infectious Diseases, Affiliated Hospital of Guizhou Medical University, Guizhou Medical University, Guiyang 550025, Guizhou Province, China
Hong Li, Department of Infectious Diseases, Guizhou Provincial People's Hospital, Guiyang 550025, Guizhou Province, China
Author contributions: Cheng N and Qin YJ contributed equally to this work; Li H designed the research study; Cheng N and Qin YJ performed the research; Qin YJ and Zhang Q contributed the analytic tools; Cheng N and Qin YJ analyzed the data and wrote the manuscript; All authors have read and approved the final manuscript.
Supported by The Department of Science and Technology of Guizhou Province, No. [2020]1Y299; National Natural Science Foundation of China, No. 82060123; National Health Commission of Guizhou Province, No. gzwjk2019-1-082; Doctor Start Fund of Affiliated Hospital of Guizhou Medical University, No. gyfybsky-2021-28; and National Natural Cultivation Fund of Affiliated Hospital of Guizhou Medical University, No. I-2020-12.
Informed consent statement: Informed consent was obtained from the patient before the publication of this case report.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read CARE Checklist (2016), and the manuscript was prepared and revised according to CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Hong Li, MD, PhD, Doctor, Department of Infectious Diseases, Guizhou Provincial People's Hospital, P.O. Box No. 83 Zhongshan East Road, Nanming District, Guiyang 550025, Guizhou Province, China. 625062102@qq.com
Received: February 28, 2023
Peer-review started: February 28, 2023
First decision: April 10, 2023
Revised: April 22, 2023
Accepted: June 13, 2023
Article in press: June 13, 2023
Published online: July 16, 2023
Core Tip

Core Tip: We report a unique case of liver cirrhosis resulting from a mutation in the ATP-binding cassette, subfamily B (ABCB4) gene in conjunction with primary light chain amyloidosis. This disease exhibits clinical manifestations such as portal hypertension, recurrent ascites, and jaundice. Intractable proteinuria, peripheral neuropathy, and gradual cardiac function damage may also appear during disease progression. Congo red staining of the liver, spleen, bone marrow, and kidney, as well as kidney immunohistochemistry and liver mass spectrometry allowed a final diagnosis to be made. The patient exhibited improvement after treatment with a combination of ursodeoxycholic acid and CD38 monoclonal antibody daratumumab.