摘要
目的:研究A、B型尼曼-匹克病(NPD)患儿的脂质特性,来确定脂质异常与早期心血管疾病的表现型或基因型是否有关。研究设计:本研究使用横断面研究法对临床研究总中心的10例NPD A型患儿和30例B型患儿进行了分析。我们对每位患儿的空腹脂质特性和空腹葡萄糖、T4、身高(身长)、体重、静息时的血压以及酸性神经鞘磷脂酶缺乏基因型进行了检测。
Objective To characterize the lipid profiles in patients with types A and B Niemann Pick disease (NPD) and determine if lipid abnormalities are associated with evidence of early cardiovascular disease or correlate with genotype. Study design The study was a cross-sectional analysis of 10 patients with NPD type A and 30 patients with NPD type B that was carried out in the General Clinical Research Center. For each patient, fasting lipid profile and glucose, T4, height or length, weight, resting blood pressure, and acid sphingomyelinase deficiency genotype were measured. In type B patients, electrocardiograhic- gated helical computed tomography of the heart also was obtained. Results Lipid abnormalities included low ( < 35 mg/dL) high-density lipoprotein cholesterol in 100% of patients and hyper-triglyceridemia and increased low-density lipoprotein cholesterol in 62% (25/40) and 67% (27/40) of patients, respectively. Coronary artery calcium scores were positive (>1.0) in 10 of 18 type B patients studied. There was no correlation of the R608 genotype with a milder phenotype for the lipid abnormalities, as has been observed for a number of other NPD manifestations. Conclusions Lipid abnormalities are part of the phenotype in types A and B NPD and may be associated with early atherosclerotic heart disease.
