Familial eosinophilia: a benign disorder?
Familial eosinophilia: a benign disorder?
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DOI：
10.1182/blood-2003-11-3850
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发表时间：
2004-06-01
期刊：
影响因子：
20.3
通讯作者：
Nutman, TB
中科院分区：
文献类型：
--
作者：
Klion, AD;Law, MA;Nutman, TB
家族性嗜酸性粒细胞增多症（FE）是一种常染色体显性遗传病，其特征是明显的嗜酸性粒细胞增多，并在一些（但不是全部）受影响的家庭成员中进展到终末器官损伤。为了更好地确定FE的发病机制，13名受影响的家庭成员和11名未受影响的家庭成员（NLs）在美国国立卫生研究院（NIH）接受了详细的临床评估。FE家族成员的临床异常并不比NLs家族成员多。然而，与未受影响的家庭成员相比，患有FE的家庭成员的哮喘患病率有所下降。在有和没有FE的家族成员中，通过光镜和透射电镜观察，嗜酸性粒细胞形态均正常。尽管与NL相比，FE患者的嗜酸性粒细胞衍生神经毒素（EDN）和主要碱性蛋白（MBP）水平升高，但这两种颗粒蛋白的水平均低于非家族性嗜酸性粒细胞增多综合征（HES）。同样，流式细胞术检测到FE患者的嗜酸性粒细胞表面活化标记物C1369、CD25和HLA-DR的表达与NL相比有所增加，尽管低于HES。这些数据表明，尽管长期明显的嗜酸性粒细胞增多，但FE可以通过更良性的临床过程与HES区分，这可能与嗜酸性粒细胞激活的相对缺乏有关。(C) 2004年由美国血液病学会出版
Familial eosinophilia (FE) is an autosomal dominant disorder characterized by marked eosinophilia and progression to end organ damage in some, but not all, affected family members. To better define the pathogenesis of FE, 13 affected and 11 unaffected family members (NLs) underwent a detailed clinical evaluation at the National Institutes of Health (NIH). No clinical abnormalities were more frequent in the family members with FE compared with the NLs. There was, however, a decreased prevalence of asthma in family members with FE compared with unaffected family members. Eosinophil morphology as assessed by either light or transmission electron microscopy was normal in family members with and without FE. Although levels of eosinophil-derived neurotoxin (EDN) and major basic protein (MBP) were elevated in patients with FE compared with NL, levels of both granule proteins were lower than in nonfamilial hypereosinophilic syndrome (HES). Similarly, increased surface expression of the activation markers C1369, CD25, and HLA-DR was detected by flow cytometry on eosinophils from patients with FE compared with NL, albeit less than that seen in HES. These data suggest that, despite prolonged marked eosinophilia, FE can be distinguished from HES by a more benign clinical course that may be related to a relative lack of eosinophil activation. (C) 2004 by The American Society of Hematology