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World J Hepatol. May 27, 2026; 18(5): 118622
Published online May 27, 2026. doi: 10.4254/wjh.v18.i5.118622
Published online May 27, 2026. doi: 10.4254/wjh.v18.i5.118622
Early-onset hepatic fibrosis linking to a novel PYROXD2 mutation: A case report
Zhen-Yao Jiang, Rong-Qiang Liu, Jun-Ping Shi, Department of Infectious Diseases and Hepatology, The Affiliated Hospital of Hangzhou Normal University, Hangzhou 310015, Zhejiang Province, China
Meng-Juan Tang, Han-Dong Fan, School of Basic Medical Sciences, Hangzhou Normal Uni
Wen-Jun Yang, Department of Pathology, The Affiliated Hospital of Hangzhou Normal Uni
Ling Gong, Department of Infectious Disease and Hepatology, The Affiliated Hospital of Hangzhou Normal University, Hangzhou 310015, Zhejiang Province, China
Ling Gong, Jun-Ping Shi, Zhejiang Key Laboratory of Medical Epigenetics, The Affiliated Hospital of Hangzhou Normal University, Hangzhou 310015, Zhejiang Province, China
Xiao-Xiao Mi, The institute of Translational Medicine, The Affiliated Hospital of Hangzhou Normal University, Hangzhou 310015, Zhejiang Province, China
Xiao-Xiao Mi, Jun-Ping Shi, Institute of Hepatology and Metabolic Diseases, Hangzhou Normal University, Hangzhou 310015, Zhejiang Province, China
Jun-Ping Shi, Institute of Translational Medicine, The Affiliated Hospital of Hangzhou Normal University, Hangzhou 310015, Zhejiang Province, China
Co-first authors: Zhen-Yao Jiang and Rong-Qiang Liu.
Co-corresponding authors: Xiao-Xiao Mi and Jun-Ping Shi.
Author contributions: Jiang ZY and Liu RQ contributed to patient recruitment and investigation, data collection, data analysis, and drafting of the initial manuscript; and they are co-first authors. Tang MJ and Fan HD were responsible for data collation, validation, and visualization; Yang WJ and Gong L oversaw data validation, patient follow-up, and participated in project supervision and guidance. Mi XX and Shi JP led the development of the research concept, secured research funding, supervised and guided the research project, and critically reviewed and revised the manuscript; and they are co-corresponding authors.
AI contribution statement: AI tools were utilized. We use DeepSeek-R1 for language polishing and improving the fluency. The entirety of the main text was not AI-generated. The content, ideas, and arguments are the original work of the authors. DeepSeek-R1 was used specifically for language polishing and improving the fluency and flow of the text. It was not used for data analysis, translation, or generating new content. AI did not participate in the design of the study or the interpretation of its results. No images were generated by AI; all figures were created by the authors using Adobe Illustrator.
Supported by the Huadong Medicine Joint Funds of the Zhejiang Provincial Natural Science Foundation of China, No. LHDMZ24H030001; the National Natural Science Foundation of China, No. 82470599; and Hangzhou Municipal Key Scientific Research Plan Project, No. 2025SZD1B09.
Informed consent statement: Written informed consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All authors declare that they have no conflict of interest to disclose.
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: Jun-Ping Shi, MD, Department of Infectious Diseases and Hepatology, The Affiliated Hospital of Hangzhou Normal University, No. 126 Wenzhou Road, Hangzhou 310015, Zhejiang Province, China. 20131004@hznu.edu.cn
Received: January 7, 2026
Revised: February 2, 2026
Accepted: February 27, 2026
Published online: May 27, 2026
Processing time: 139 Days and 13.9 Hours
Revised: February 2, 2026
Accepted: February 27, 2026
Published online: May 27, 2026
Processing time: 139 Days and 13.9 Hours
Core Tip
Core Tip: For the first time, our study reports that a heterozygous frameshift mutation in the pyridine nucleotide-disulfide oxidoreductase domain 2 (PYROXD2) gene may underlie early-onset liver fibrosis. This variant impairs the function of mitochondrial oxidoreductases, ultimately triggering metabolic disturbances and the development of early liver fibrosis. Our findings uncover a novel pathogenic variation of PYROXD2 linking to early-onset liver fibrosis, thereby providing a new rationale for the genetic diagnosis of related disorders.