Alagille Syndrome and Other Hereditary Causes of Cholestasis

作者：Hartley Jane L; Gissen Paul; Kelly Deirdre A^*

来源：Clinics in Liver Disease, 2013, 17(2): 279-+.

DOI：10.1016/j.cld.2012.12.004

• Conjugated hyperbilirubinemia
• Neonatal jaundice
• Pruritus
• Hepatosplenomegaly
• Fat-soluble vitamins

Alagille Syndrome and Other Hereditary Causes of Cholestasis Jane L. Hartley, Paul Gissen, and Deirdre A. Kelly 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.

• 出版日期2013-5