糖原累积病Ⅱ型患儿的心脏表现:附4例报告并文献复习  

Clinical analysis of glycogen storage disease typeⅡ:4 cases report and literature review

作　　者：郭潇潇[1] 郭立琳[1] 朱文玲[1] 

机构地区：[1]中国医学科学院/中国协和医科大学北京协和医院心内科,100730

出　　处：《疑难病杂志》2011年第4期253-255,共3页Chinese Journal of Difficult and Complicated Cases

摘　　要：目的总结糖原累积病Ⅱ型(GSDⅡ型)患者的临床特点特别是心脏表现,以提高认识。方法回顾性分析2006年1月—2010年4月收治的4例GSDⅡ型患者的临床表现、实验室检查、心电图(ECG)和超声心动图结果、治疗及转归情况并复习文献。结果本组GSDⅡ型患者4例,2例为经典早发型,2例为晚发型,前者病情重、进展快,心脏出现室壁增厚、左室收缩功能减低、心包积液等多种病变,预后差;后者以骨骼肌、呼吸肌受累为主,心脏受累轻。经对症支持治疗3例死亡,1例仍需呼吸机辅助呼吸。结论 GSDⅡ型患者以经典早发型病情为重、心脏病变突出,预后较差,应考虑尽早进行酶替代治疗。Objective To summarize the clinical manifestations of cardiovascular system in glycogen storage disease （GSD） typeⅡ.Method The clinical data of GSD typeⅡpatients in our hospital from Jan,2006 to Apr,2010 was reviewed. Their electrocardiography（ECG） and echocardiography（Echo） features were analyzed.Results Two of the 4 patients were infantile with presenting progressive symptoms and severe cardiac involvement including hypertrophic cardiomyopathy, left ventricular dysfunction and pericardial effusion.The other 2 cases were late onset with less affected of heart.Most of the cases had poor prognosis.3 cases were dead,1 case need ventilator.Conclusion GSD typeⅡpatients may present severe cardiac complications and should be given enzyme replacement therapy as early as possible.

关 键 词：糖原累积病Ⅱ型 心脏病变 心力衰竭 

分 类 号：R725.8[医药卫生—儿科]