Leukopenia, macrocytosis, and thrombocytopenia occur in young adults with Down syndrome.
Leukopenia, macrocytosis, and thrombocytopenia occur in young adults with Down syndrome.
复制标题
白细胞减少症、大红细胞增多症和血小板减少症发生在患有唐氏综合症的年轻人中。
DOI：
10.1016/j.gene.2022.146663
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发表时间：
2022
期刊：
影响因子：
3.5
通讯作者：
Osato M.
中科院分区：
文献类型：
--
作者：
Hamaguchi Y;Kondoh T;Fukuda M;Yamasaki K;Yoshiura KI;Moriuchi H;Morii M;Muramatsu M;Minami T;Osato M.
唐氏综合征（Down syndrome，DS）是一种常见的由21三体引起的先天性疾病。由于随着人口老龄化母亲年龄的增加以及儿童早期致命并发症的医学治疗的进步，DS个体的患病率和预期寿命大大增加。尽管DS成人的数量有所增加，但他们的血液学状态仍然很差。在这里，我们报告三种血液学异常，白细胞减少症，巨红细胞症和血小板减少症，发展为成人DS相关的功能。对从51例DS和60例对照成人中收集的血液学数据进行的多变量和单变量分析表明，与对照组相比，DS年轻成人发生（i）骨髓显性白细胞减少症、（ii）以红细胞平均体积（MCV）高为特征的巨红细胞症和（iii）血小板计数降低的风险显著较高。值得注意的是，这些特征随着年龄的增长而更加明显。对DS成人的进一步分析将为普通人群中多种衰老相关疾病提供更深入的理解和新的研究视角。
Down syndrome (DS) is a common congenital disorder caused by trisomy 21. Due to the increase in maternal age with population aging and advances in medical treatment for fatal complications in their early childhood, the prevalence and life expectancy of DS individuals have greatly increased. Despite this rise in the number of DS adults, their hematological status remains poorly examined. Here, we report that three hematological abnormalities, leukopenia, macrocytosis, and thrombocytopenia, develop as adult DS-associated features. Multi- and uni-variate analyses on hematological data collected from 51 DS and 60 control adults demonstrated that young adults with DS are at significantly higher risk of (i) myeloid-dominant leukopenia, (ii) macrocytosis characterized by high mean cell volume (MCV) of erythrocytes, and (iii) lower platelet counts than the control. Notably, these features were more pronounced with age. Further analyses on DS adults would provide a deeper understanding and novel research perspectives for multiple aging-related disorders in the general population.