Clinical Features of Alagille Syndrome

作者: 金怡汶 , 郑青青 , 熊 晖 , 常杏芝 , 秦 炯 :北京大学第一医院儿科,北京;

关键词: Alagille综合征胆汁淤积Alagille Syndrome Cholestasis

摘要: 目的:探讨Alagille综合征的临床特征、诊断及治疗。方法:回顾性分析1Alagille综合征患儿的临床表现及实验室检查,并结合文献进行讨论。结果:患儿为5岁女孩,因皮肤瘙痒、肝功能异常5年住院。既往经抗感染及保肝治疗,皮肤瘙痒及肝功能改善不明显。体检可见前额突出及尖下颌,胸骨左缘第II肋间可闻及3/6级收缩期杂音,眼科检查见双眼角膜后胚胎环。结论:Alagille综合征是引起婴儿慢性胆汁淤积的重要原因,对婴儿期起病的慢性胆汁淤积性肝病患儿,如合并存在面容异常及心脏杂音,应考虑Alagille综合征的可能

Abstract: Objectives: To elucidate the clinical features, diagnosis and treatment of Allagille syndrome. Methods: Clinical data including history, physical examination and laboratory findings were collected from a child who was diagnosed with Alagille Syndrome. The clinical data were discussed with related literatures. Results: A five-year girl presented with persistent liver dysfunction and pruritus for about five years, which couldn’t be relieved by antiinfective and liver-protecting therapy. Physical examination showed cardiac murmur in the second and third left intercostals spaces. Characteristic face malformations manifested as prominent forehead and small mandible. Funduscopy examination showed posterior embryotoxon. Conclusions: Alagille syndrome is an important cause of chronic cholestasis. When examining child with prolonged cholestasis, face malformations and heart murmur, Alagille syndrome should be included in the differentiate diagnosis.

文章引用: 金怡汶 , 郑青青 , 熊 晖 , 常杏芝 , 秦 炯 (2014) Alagille综合征的临床特征。 亚洲儿科病例研究, 2, 7-9. doi: 10.12677/ACRP.2014.22002


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