Alagille综合征是常染色体显性遗传病,以胆汁淤积症,小叶间胆管减少及心血管系统、眼、骨骼、面部异常为特征。其临床表现多变,可外观正常,也可出现肝功能衰竭及复杂心脏畸形。病因是JAGI基因缺失,该基因编码对细胞分化起重要作用的Notch信号通道的配体。报道检测Alagille综合? Alagille syndrome is an autosomal dominant genetic disorder characterized by cholestasis, interlobular hypothalamic and cardiovascular system, ocular, skeletal and facial abnormalities. Its clinical manifestations varied, the appearance of normal, but also liver failure and complex cardiac malformations. The etiology is the absence of the JAGI gene, which encodes a ligand for the Notch signaling pathway that plays an important role in cell differentiation. Report testing Alagille synthesis?