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Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Apr 14, 2023; 29(14): 2114-2126
Published online Apr 14, 2023. doi: 10.3748/wjg.v29.i14.2114
Challenges in pediatric inherited/metabolic liver disease: Focus on the disease spectrum, diagnosis and management of relatively common disorders
Yi-Gui Zou, Huan Wang, Wen-Wen Li, Dong-Ling Dai
Yi-Gui Zou, Huan Wang, Wen-Wen Li, Dong-Ling Dai, Key Laboratory for Precision Diagnosis and Treatment of Pediatric Digestive System Diseases and Endoscopy Center, Shenzhen Children's Hospital, Shenzhen 518026, Guangdong Province, China
Author contributions: Zou YG, Wang H and Li WW drafted the manuscript; Dai DL critically edited, revised and finalized the manuscript; Zou YG, Wang H and Li WW contributed equally to this manuscript; all of the authors approved the submission of this manuscript.
Supported by the Shenzhen Science and Technology Innovation Program, No. JCYJ20220818102801004 (to Dai DL).
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
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: Dong-Ling Dai, DPhil, MD, PhD, Chief Doctor, Professor, Key Laboratory for Precision Diagnosis and Treatment of Pediatric Digestive System Diseases and Endoscopy Center, Shenzhen Children's Hospital, No. 7019 Yitian Road, Futian District, Shenzhen 518026, Guangdong Province, China. daidong3529@sina.com
Received: December 23, 2022
Peer-review started: December 23, 2022
First decision: January 3, 2023
Revised: January 9, 2023
Accepted: March 21, 2023
Article in press: March 21, 2023
Published online: April 14, 2023
Abstract

The clinical scenario of pediatric liver disease is becoming more intricate due to changes in the disease spectrum, in which an increasing number of inherited/ metabolic liver diseases are reported, while infectious diseases show a decreasing trend. The similar clinical manifestations caused by inherited/metabolic diseases might be under-recognized or misdiagnosed due to nonspecific characteristics. A delayed visit to a doctor due to a lack of symptoms or mild symptoms at an early stage will result in late diagnosis and treatment. Moreover, limited diagnostic approaches, especially liver biopsy, are not easily accepted by pediatric patients, leading to challenges in etiological diagnosis. Liver dysfunction due to inherited/metabolic diseases is often caused by a variety of metabolites, so precision treatment is difficult; symptomatic treatment is a compelling option for inherited disorders.

Keywords: Hepatitis, Genetic, Liver disease, Cholestasis, Challenge, Pediatric

Core Tip: The spectrum of diseases causing pediatric liver dysfunction has been changing, and an increasing number of inherited/metabolic disorders have been increasingly recognized as major contributors to liver disease in children. Etiological diagnosis remains challenging due to the frequent absence of symptoms or nonspecific signs and limited diagnostic approaches, especially liver biopsy, which is not easily accepted by pediatric patients. Consequently, the treatment of pediatric inherited/ metabolic liver disease is challenging. In this manuscript, we review here the challenges in pediatric inherited/metabolic liver disease, including epidemiological changes in the disease spectrum and challenges in etiological diagnosis and treatment.