Zuo J, Wang LY, Fan YC. Recurrent pruritus, jaundice, and pancreatitis in an adult due to a rare etiology: A case report. World J Hepatol 2026; 18(6): 121392 [DOI: 10.4254/wjh.121392]
Corresponding Author of This Article
Yu-Chen Fan, MD, PhD, Department of Hepatology, Qilu Hospital of Shandong University, No. 107 Wenhuaxi Road, Jinan 250012, Shandong Province, China. fanyuchen@sdu.edu.cn
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Gastroenterology & Hepatology
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case-report
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Zuo J, Wang LY, Fan YC. Recurrent pruritus, jaundice, and pancreatitis in an adult due to a rare etiology: A case report. World J Hepatol 2026; 18(6): 121392 [DOI: 10.4254/wjh.121392]
World J Hepatol. Jun 27, 2026; 18(6): 121392 Published online Jun 27, 2026. doi: 10.4254/wjh.121392
Recurrent pruritus, jaundice, and pancreatitis in an adult due to a rare etiology: A case report
Jing Zuo, Li-Yuan Wang, Yu-Chen Fan
Jing Zuo, Li-Yuan Wang, Yu-Chen Fan, Department of Hepatology, Qilu Hospital of Shandong University, Jinan 250012, Shandong Province, China
Co-corresponding authors: Li-Yuan Wang and Yu-Chen Fan.
Author contributions: Wang LY and Fan YC contributed equally to this work as co-corresponding authors; Zuo J drafted the manuscript; Wang LY and Fan YC critically reviewed the manuscript and they jointly oversaw the study design, data interpretation, manuscript writing, and revision; and all authors read and approved the final version of the manuscript.
AI contribution statement: No generative AI tools were used for content creation. Only DeepL was applied to polish the language of the manuscript.
Supported by the National Key Research and Development Program of China, No. 2023YFF0718804; and the Clinical Research Centre of Shandong University, No. 2021SDUCRCB006.
Informed consent statement: Written informed consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare no competing interests.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Corresponding author: Yu-Chen Fan, MD, PhD, Department of Hepatology, Qilu Hospital of Shandong University, No. 107 Wenhuaxi Road, Jinan 250012, Shandong Province, China. fanyuchen@sdu.edu.cn
Received: March 24, 2026 Revised: May 8, 2026 Accepted: June 1, 2026 Published online: June 27, 2026 Processing time: 90 Days and 8.6 Hours
Abstract
BACKGROUND
Benign recurrent intrahepatic cholestasis type 1 (BRIC1) is an autosomal recessive disorder linked to mutations in ATP8B1. We report a case of BRIC1 with the unusual combination of recurrent pancreatitis and hearing loss, features that extend beyond the classic hepatic phenotype.
CASE SUMMARY
An adult male with recurrent jaundice, pruritus, and pancreatitis from 2019 to 2025 underwent laboratory and imaging studies, liver biopsy, and genetic sequencing. Histology confirmed intrahepatic cholestasis. An ATP8B1 minigene plasmid was constructed to assess splicing effects in vitro. Sequencing identified compound heterozygous ATP8B1 variants: c.1214_1215delAT (p.Y405Cfs*24) and c.3015G>A (p.Q1005Q). Functional studies provided the evidence for reclassifying the c.3015G>A variant from uncertain significance to likely pathogenic (LP) in BRIC1. In addition, the patient appeared to show a favorable response to glucocorticoids therapy.
CONCLUSION
An adult with BRIC1 and relatively rare extrahepatic phenotype had functional evidence for the LP of a novel ATP8B1 variant.
Core Tip: This case represents the first report of potential pathogenicity for the c.3015G>A variant, providing novel support for clinical screening in benign recurrent intrahepatic cholestasis type 1 (BRIC1). The patient presented with a relatively rare phenotype of BRIC1, characterized by recurrent pancreatitis and hearing loss alongside hepatic involvement. The clinical course suggests a potential role for glucocorticoids in the personalized management of patients with such phenotypes.
