Liver Unit, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK.
Clin Liver Dis. 2013 May;17(2):279-300. doi: 10.1016/j.cld.2012.12.004.
Neonatal conjugated jaundice is a common presentation of hereditary liver diseases, which, although rare, are important to recognize early. Developments in molecular genetic techniques have enabled the identification of causative genes, which has improved diagnostic accuracy for patients and has led to a greater understanding of the molecular pathways involved in liver biology and pathogenesis of liver diseases. This review provides an update of the current understanding of clinical and molecular features of the inherited liver diseases that cause neonatal conjugated jaundice.
新生儿结合型黄疸是遗传性肝脏疾病的常见表现，尽管这些疾病较为罕见，但早期识别非常重要。分子遗传学技术的发展使得鉴定致病基因成为可能，这提高了患者的诊断准确性，并加深了我们对涉及肝脏生物学和肝脏疾病发病机制的分子途径的理解。本文综述了导致新生儿结合型黄疸的遗传性肝脏疾病的临床和分子特征的最新认识。
