Hereditary liver diseases are rare conditions characterized by a wide variety of types and very low incidence rate for each one. Their clinical manifestations are diverse, and diagnosis often requires specialized testing, posing a high likelihood of missed or misdiagnosis. Systemic learning the basic knowledge and classification of hereditary liver diseases, as well as an understanding of the clinical features, laboratory findings, imaging, and pathological features of the relatively common hereditary liver diseases in adults, such as Wilson's disease, hemochromatosis, and alpha-1 antitrypsin deficiency, is essential. Targeted genetic testing can aid in the timely identification and correct diagnosis of these diseases. Once the etiology is revealed, appropriate treatment can often improve the clinical outcomes and quality of life. Cell therapy and gene therapy represent future directions and may offer the chance of cure for certain conditions. Currently, for patients who have progressed to end-stage liver disease, liver transplantation remains the ultimate treatment option and mostly yield excellent long-term prognosis if the indication and timing are appropriate.
遗传性肝病大多属于罕见疾病，其种类繁多，但单个疾病的发病率低，且临床表现多样，诊断需要特殊检查，因此容易被漏诊和误诊。通过系统学习，了解遗传性肝病的概貌及分类，掌握成人相对常见的遗传性肝病如威尔逊氏病、血色病及α1抗胰蛋白酶缺乏症的临床特征，实验室、影像及病理学特点，必要时有针对性地进行基因检测，有助于正确认识和及时发现本类疾病。在明确病因的基础上，给予有针对性的治疗，以改善其临床结局及生活质量。细胞治疗和基因治疗是未来发展方向。目前，对于发展至终末期肝病者，在适应证明确和手术时机合适的情况下，肝移植是唯一有效的治疗手段。.