Challenges in pediatric inherited/metabolic liver disease: Focus on the disease spectrum, diagnosis and management of relatively common disorders

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.

Automated summary

The clinical scenario of pediatric liver disease has become more complicated with changes in the disease spectrum, including an increase in inherited/metabolic liver diseases and a decrease in infectious diseases. Similar clinical manifestations caused by inherited/metabolic diseases may be overlooked due to nonspecific characteristics. Late diagnosis and treatment can occur due to delayed visits to doctors and limited diagnostic approaches, such as liver biopsy, are challenging in pediatric patients. Precision treatment for liver dysfunction caused by inherited/metabolic diseases is difficult, making symptomatic treatment a compelling option for inherited disorders.