Published online Apr 14, 2023. doi: 10.3748/wjg.v29.i14.2114
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
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.
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.