Challenges in pediatric inherited/metabolic liver disease: Focus on the disease spectrum, diagnosis and management of relatively common disorders
作者机构：Key Laboratory for Precision Diagnosis and Treatment of Pediatric Digestive System Diseases and Endoscopy CenterShenzhen Children's HospitalShenzhen 518026Guangdong ProvinceChina
出 版 物：《World Journal of Gastroenterology》 (世界胃肠病学杂志（英文版）)
年 卷 期：2023年第29卷第14期
页 面：2114-2126页
核心收录：
学科分类：1002[医学-临床医学] 100202[医学-儿科学] 10[医学]
基 金：Supported by the Shenzhen Science and Technology Innovation Program No.JCYJ20220818102801004(to Dai DL).
主 题：Hepatitis Genetic Liver disease Cholestasis Challenge Pediatric
摘 要：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.
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