摘要目的 分析糖原累积症Ⅰ型心血管疾病损害的危险因素.方法 收集62 例糖原累积症Ⅰ型患者的临床资料,分析其心脏损害的发生率及可能诱发心血管疾病的高危因素.结果 62例患者中,女性26例,男性36例,平均年龄(8.4±6.9)岁,平均病程(6.7±6.2)年,接受治疗时间(38.3±35.2)个月.其中17.7%的患者有心电图异常,24.2%的患者超声心动图有异常发现;治疗前后患者的血总胆固醇、甘油三酯、低密度脂蛋白胆固醇、高密度脂蛋白胆固醇和血尿酸分别为(6.18±2.47)mmol/L与(5.61±1.84)mmol/L,P=0.020;(11.17±9.85)mmol/L与(6.81±5.97)mmol/L,P=0.010;(2.55±1.27)mmol/L与(2.78±1.07)mmol/L,P=0.617;(0.98±0.37)mmol/L与(0.96±0.23)mmol/L,P=0.005;(526.53±127.09)μmol/L与(490.78±129.79)μmol/L,P=0.977.高敏C反应蛋白水平则由治疗前的(2.33±3.30)mg/L升至(3.35±3.39)mg/L,P=0.431.结论 糖原累积症Ⅰ型患者可能是心血管疾病的高危人群,应重视糖原累积症Ⅰ型引起的心血管系统受累及相关的危险因素.

abstractsObjective To investigate the cardiovascular risk profile in patients with glycogen storage disease (GSD) type Ⅰ.Method The clinical information of 62 patients with GSD type Ⅰ who admitted to Peking Union Medical Hospital were reviewed and the cardiovascular risk profile was analyzed.Results The age of the 26.The median disease duration was (6.7±6.2) years and treatment duration was (38.3±35.2) months. The rate of abnormal change in electrocardiogram and echocardiography was 17.7% and 24.2%, respectively. The serum concentration of total cholesterol(TC), triglyceride(TG), low-density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol (HDL-C) and uric acid in patient before and after treatment were (6.18±2.47)mmol/L vs. (5.61±1.84)mmol/L(P=0.020),(11.17±9.85)mmol/L vs. (6.81±5.97)mmol/L(P=0.010),(2.55±1.27)mmol/L vs. (2.78±1.07)mmol/L(P=0.617),(0.98±0.37)mmol/L vs. (0.96±0.23)mmol/L(P=0.005),(526.53±127.09)μmol/L vs. (490.78±129.79)μmol/L(P=0.977), respectively. The high-sensitivity C-reactive protein levels tended to be higher after therapy compared before treatment (2.33±3.30)mg/L vs. (3.35±3.39)mg/L, P=0.431.Conclusion Patients with GSD Ⅰ are associated with an increased risk for cardiovascular disease.