儿童遗传代谢性肝病诊治现状及展望

Current status and prospect of diagnosis and treatment of inherited metabolic liver disease in children

代谢性肝病是儿童肝损伤的病因之一,因其复杂的临床表现及常规诊断方法的局限,难以早期诊断。检测技术水平的进步为儿童代谢性肝病早期确诊奠定了基础。如能早期确诊,通过适当的饮食或药物治疗,一部分代谢性肝病预后良好。今后应注重儿童代谢性肝病的预防,加强基础与临床的进一步研究,为诊断及治疗提供新的手段和方法。

Metabolic liver disease is one of the etiological causes of liver damage in children. Because of its complex clinical manifestations and the limitations of conventional diagnostic methods, it is difficult to make definite diagnosis in early stage. The progress of diagnostic technologies in recent years has laid a foundation for early diagnosis of the disease. Through appropriate diet or drug therapy, good prognosis will be achieved if definite diagnosis is made early. So the prevention of metabolic liver disease in children should be paid much attention, and meanwhile basic and clinical research should be strengthened, so as to provide new techniques and methods for the diagnosis and treatment of the disease.