Mild macrocytosis in Williams-Beuren syndrome
Mild macrocytosis in Williams-Beuren syndrome
复制标题
DOI：
10.1016/j.ejmg.2019.103740
复制
发表时间：
2020-03-01
影响因子：
1.9
通讯作者：
Pober, Barbara R.
中科院分区：
文献类型：
--
作者：
Yu, Eric;Feinn, Richard;Pober, Barbara R.
目的：评估Williams-Beuren综合征(WBS)患者巨核细胞增多症的发生率和发生率。研究设计：收集179例1-69岁WBS患者的全血细胞计数(CBC)数据，并对常见参数进行趋势评估。Z变换平均红细胞体积(MCV)与每个实验室的参考范围以及2013-2014年国家健康与营养检查调查(NHANES)数据档案中的对照数据进行比较。结果：略高于三分之一(35%)的受试者至少有一次记录的巨核细胞增多症。在CBC参数与期望人群平均值的比较中，MCV和MCH大于期望值，而Hct和RDW低于期望值。与对照组相比，WBS组红细胞MCV分布右移，与平均值相同。尽管如此，除了一个医学上复杂的WBS受试者外，没有贫血。虽然缺乏可能导致MCV升高的变量的数据，但尚不能阐明明显的病因。结论：轻度无贫血的巨噬细胞增多症影响WBS患者的中度亚群，导致MCV分布曲线右移。在WBS中遇到孤立的轻度巨细胞增多症的提供者可以考虑在进一步的检查中进行观察。
Objective: To evaluate the occurrence and estimate the frequency of macrocytosis in Williams-Beuren syndrome (WBS).Study design: Complete blood count (CBC) data from 179 subjects with WBS aged 1-69 were collected, with common parameters assessed for trends. Z-transformed mean corpuscular volume (MCV) was compared with each laboratory's reference range as well as with control data from the National Health and Nutrition Examination Survey (NHANES) 2013-2014 data archives.Results: Just over a third (35%) subjects had at least one recorded incidence of macrocytosis. In comparisons of CBC parameters with an expected population mean, MCV and MCH were greater than, while Hct and RDW were lower than, expected values. The distribution of erythrocyte MCV is shifted to the right in WBS compared to controls, as was the mean value. Despite this, anemia was absent, except in a single medically complex WBS subject. Though there was a paucity of data available of variables that could potentially cause an elevated MCV, no obvious etiology could be elucidated.Conclusions: Mild macrocytosis without anemia affects a moderate subset of WBS patients, leading to a rightward shift in the MCV distribution curve. Providers encountering isolated mild macrocytosis in WBS can consider observation over further workup.