Lipid abnormalities in children with types A and B Niemann Pick disease
Lipid abnormalities in children with types A and B Niemann Pick disease
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DOI：
10.1016/j.jpeds.2004.02.048
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发表时间：
2004-07-01
影响因子：
5.1
通讯作者：
Wasserstein, MP
中科院分区：
文献类型：
--
作者：
McGovern, MM;Pohl-Worgall, T;Wasserstein, MP
目的探讨A型和B型尼曼匹克病（NPD）患者的血脂特点，并确定血脂异常是否与早期心血管疾病的证据或与genotype.Study设计-这项研究是一个横断面分析的10例NPD A型和30例NPD B型，是在综合临床研究中心进行。对每例患者测定空腹血脂、血糖、T4、身高、体重、静息血压和酸性鞘磷脂酶缺乏基因型。结果血脂异常包括100%的患者高密度脂蛋白胆固醇（< 35 mg/dL）降低，62%（25/40）的患者高脂血症，67%（27/40）的患者低密度脂蛋白胆固醇（<35 mg/dL）升高。18例B型患者中有10例冠状动脉钙化积分为阳性（> 1.0）。有没有相关性的DeltaR 608基因型与一个温和的表型的脂质abnormalities，已经观察到的一些其他NPD的increasing.Conclusions脂质异常的一部分，在A型和B NPD的表型，并可能与早期动脉粥样硬化性心脏病。
Objective To characterize the lipid profiles inpatients 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 hypertriglyceridemia 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 DeltaR608 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.