王建设婴儿胆汁淤积症.pptVIP

Citrin 缺陷病国际研讨会（上海） 2010年6月26日 两种主要表型 婴儿肝炎综合征（NICCD） Ⅱ型瓜氨酸血症（CTLN2） 也可以生长迟缓、严重出血、非酒精性脂肪肝、肝癌等就诊 如能在婴儿期及时诊断，可避免发展为致命性表型。 主讲： 德岛文理大学佐伯武赖(Takeyori Saheki)教授 鲁儿岛大学小林圭子(Keiko Kobayashi)教授 日本国际松本生命科学研究所张春花(Chunhua Zhang)所长 内容 发病概要、病理机制 快速筛查、临床诊断 分子学诊断和治疗 日本AASPP基金 资助 复旦大学附属儿科医院 通信地址：上海市万源路399号 邮编：201102 王建设医生021刘丽艳医 021email：jianshewang@ 王建设 复旦大学附属儿科医院 Tel：021Email：jshwang@ Mobile:* Knowledge of the biochemical and molecular events that affect liver development is critical to understanding how developmental defects of the liver and bile ducts occur, and why infants are highly susceptible to the development of cholestasis in association with bacterial infection or exclusive intravenous feeding.3 A clearer understanding of these dynamic events has led to an explosion of knowledge regarding hepatobiliary development, developmental biology and developmental physiology. This, in turn, has resulted in elucidation of disease mechanisms, including the genetic basis of liver and biliary tract disease. The end result is insight into the hepatobiliary diseases of children and adults. * * * when to schedule the biopsy or imaging test. Many times this fast track will produce a diagnosis * * * * If the conjugated bilirubin is indeed elevated, the patient should be asked to return to the office within the next few days and the remaining laboratory values outlined in Table 3 should be obtained. Again, time is of importance principally in the diagnosis of biliary atresia, as those infants who undergo repair prior to the age of 8 weeks generally have better outcomes. Although a thorough discussion of the tests in Table 3 would be lengthy, some explanation is certainly helpful. * ALT/AST是肝损伤和肝细胞坏死的敏感标志。只要有1%的肝细胞坏死，血清中ALT活性即可增高1倍。 除肝脏外，AST存在于心肌、骨骼肌、肾脏、胰腺和红细胞。在任何原因(外伤、缺血、药物等)引起上述组织的损伤时AST水平均升高。因此单凭AST升高来诊断肝脏疾病时一定要特别注意。病毒感染引起的横纹肌溶解以及标本溶血均可AST显著升高（伴ALT轻度升高）。有报道及在我院临床实践中也遇到过因显著AST和/或ALT升高初诊为肝病，而后发现肝脏正常，有慢性亚临床肌病的病例。此时检查LDH同工酶有助于区别溶血或肌病，我个人