Clinical features and diagnosis of inherited metabolic liver disease / 临床肝胆病杂志

ABSTRACT

Inherited metabolic liver disease has complex etiologies and various types, and its clinical manifestations lack specificity, which may lead to missed diagnosis and misdiagnosis. A clinical diagnosis should be given based on symptoms, signs, laboratory examination, imaging findings, liver biopsy, and gene detection, in order to provide a basis for early treatment. Therefore, clues from clinical examination play an important role in the diagnosis of this disease. This article summarizes the clinical clues and diagnostic ideas of inherited metabolic liver disease.