Cheng N, Qin YJ, Zhang Q, Li H. ABCB4 gene mutation-associated cirrhosis with systemic amyloidosis: A case report. World J Clin Cases 2023; 11(20): 4903-4911 [PMID: 37584002 DOI: 10.12998/wjcc.v11.i20.4903]
Corresponding Author of This Article
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
Research Domain of This Article
Infectious Diseases
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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: http://creativecommons.org/licenses/by-nc/4.0/
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 byThe 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 Processing time: 133 Days and 17.5 Hours
Abstract
BACKGROUND
Gene mutations in ATP-binding cassette, subfamily B (ABCB4) lead to autosomal recessive disorders. Primary light amyloidosis is a rare and incurable disease. Here, we report a rare case of liver cirrhosis caused by ABCB4 gene mutation combined with primary light amyloidosis.
CASE SUMMARY
We report a case of a 25-year-old female who was hospitalized due to recurrent abdominal pain caused by calculous cholecystitis and underwent cholecystectomy. Pathological examination of the liver tissue suggested liver cirrhosis with bile duct injury. Exon analyses of the whole genome from the patient’s peripheral blood revealed the presence of a heterozygous mutation in the ABCB4 gene. Bone marrow biopsy tissues, renal puncture examination, and liver mass spectrometry confirmed the diagnosis of a rare progressive familial intrahepatic cholestasis type 3 with systemic light chain type κ amyloidosis, which resulted in cirrhosis. Ursodeoxycholic acid and the cluster of differentiation 38 monoclonal antibody daretozumab were administered for treatment. Following treatment, the patient demonstrated significant improvement. Urinary protein became negative, peripheral blood-free light chain and urine-free light chain levels returned to normal, and the electrocardiogram showed no abnormalities. Additionally, the patient’s lower limb numbness resolved, and her condition remained stable.
CONCLUSION
This report presents the diagnosis and treatment of liver cirrhosis, a rare disease that is easily misdiagnosed or missed.
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.
