糖原累积症Ⅰ型心血管受累的临床分析

Cardiovascular risk profile of patients with glycogen storage disease type Ⅰ

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.

Objective 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.