我国首例家族性脂蛋白脂酶缺乏症的临床研究  

Clinical studies of the first case of lipoprotein lipase deficiency in China

作　　者：胡维诚[1] 刘玉梅[1] 李莉[1] 闫晓梅[1] 徐军[1] 潘其兴[1] 范萍[1] 刘宇[1] 刘秉文[1] 

机构地区：[1]山东医科大学病理生理学教研室,山东医科大学附属医院心内科,华西医科大学载脂蛋白研究室,山东省能源建筑设计院

出　　处：《中国病理生理杂志》1996年第1期46-49,共4页Chinese Journal of Pathophysiology

摘　　要：本文报道了我国首例家族性脂蛋白脂酶缺乏症。患者有反复发作的急性胰腺炎病史。空腹血清呈乳糜状，为典型的Ｉ型高脂蛋白血症表型。肝素化后血浆脂蛋白脂酶活性低于正常的１／１０。载脂蛋白Ｃ─Ⅱ含量增高。肝酯酶活性正常，服用多种降脂药物无效。外源性肝素化后血浆输入短时间内降低血清甘油三酯浓度。The first case of familial lipoprotein lipase(LPL)deficiency in China is re-ported. The patient had repeated episodes of abdominal pain,recurrent attacks ofpancreatitis,massive accumulation of chylomicrons in plasma and an increase oftriglyceride concentrdtion(type I hyperlipoproteinemia pattem).Her LPL activity was lowerthan 10 % of the control,and her hepatic lipase activity was normal. Her apoC-Ⅱconcentration was increased. No medicine had been effective. T ransfusion of exogenouspostheparin blood decreased her triglyceride concentration in plasma within 1～2 days.

关 键 词：脂蛋白脂酶缺乏 家族性 病例报告 

分 类 号：R591.2[医药卫生—内科学]