The clinical phenotype of genetic liver disease is significantly different. Although the incidence of disease is low, because of the wide spectrum of diseases, the overall affected population is not rare. Therefore, clinical concern is a matter of alarm. Additionally, these diseases rarity in clinical practice has covered the recognition, causing increased problem of clinical misdiagnosis. In accordance with the problems encountered in clinical practice of our hospital, we explore the clinical diagnosis of genetic liver disease.
遗传代谢性肝病临床表型差异显著，尽管每种疾病的发病率不高，由于疾病谱广，总体受累人群并不少见，临床应予重视。这类疾病临床罕见，相对认识不足，临床误诊问题较为突出，现以临床实践过程中所遇到的问题为出发点，探讨一下遗传代谢性肝病的临床基因诊断。.
Keywords: Diagnosis; Genes; Hereditary metabolic liver diseases; Heredity.