Copyright
©The Author(s) 2026. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Hepatol. Jan 27, 2026; 18(1): 113485
Published online Jan 27, 2026. doi: 10.4254/wjh.v18.i1.113485
Published online Jan 27, 2026. doi: 10.4254/wjh.v18.i1.113485
Clinical spectrum and genotype-phenotype correlation of ABCB4 mutations in children: Insights from a North Indian cohort
Chennakeshava Thunga, Alisha Babbar, Sadhna Bhasin Lal, Department of Paediatric Gastro
Suvradeep Mitra, Raghav Lal, Nandita Kakkar, Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh 160012, India
Arnab Pal, Department of Biochemistry, Post Graduate Institute of Medical Education and Research, Chandigarh 160012, India
Co-first authors: Chennakeshava Thunga and Suvradeep Mitra.
Author contributions: Thunga C and Mitra S were responsible for patient recruitment, intellectual content, acquisition and analysis of data, initial draft of the manuscript, histopathology reporting, and co-draft of the original manuscript as co-first authors; Babbar A was responsible for patient recruitment, acquisition and analysis of data; Lal R was responsible for histopathology documentation, and intellectual inputs; Pal A was responsible for biochemistry and laboratory reporting, and intellectual inputs; Kakkar N was responsible for histopathology reporting and intellectual inputs; Lal SB was responsible for conception and design of study, supervision of study, interpretation of data, critical intellectual content, revision, and editing; all of the authors read and approved the final version of the manuscript to be published.
Institutional review board statement: The study was reviewed and approved by the Ethics Committee, No. IEC-INT/2023/DM-1452.
Informed consent statement: All participants provided informed consent.
Conflict-of-interest statement: All authors declare no conflict of interest in publishing the manuscript.
Data sharing statement: No additional data are available.
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: Sadhna Bhasin Lal, Head, Professor, Department of Paediatric Gastro
Received: August 28, 2025
Revised: September 28, 2025
Accepted: December 8, 2025
Published online: January 27, 2026
Processing time: 153 Days and 23.5 Hours
Revised: September 28, 2025
Accepted: December 8, 2025
Published online: January 27, 2026
Processing time: 153 Days and 23.5 Hours
Core Tip
Core Tip: Patients with ABCB4 mutations continue to pose an enigma for clinicians, and understanding of the varied manifestations continues to evolve. Children with biallelic mutations had a progressive disease with ascites, larger varices and decompensation. Children with monoallelic mutations fare better with significantly better liver function in follow-up; however, the risk of disease progression and decompensation remains and needs close monitoring. Protein-truncating mutations and missense mutations in highly conserved domains are associated with early disease progression. Early genetic testing and family screening may help in tailoring treatment and prognostication.