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遗传性良性中性粒细胞减少症:现象有了合理解释。

Ethnic benign neutropenia: A phenomenon finds an explanation.

机构信息

Department of Medicine Karolinska Institutet, The Hematology Center, Karolinska University Hospital Huddinge, Stockholm, Sweden.

Department of Medicine Karolinska Institutet, Department of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital Huddinge, and Center for Hematology and Regenerative Medicine (HERM), Stockholm, Sweden.

出版信息

Pediatr Blood Cancer. 2018 Dec;65(12):e27361. doi: 10.1002/pbc.27361. Epub 2018 Aug 16.

Abstract

Ethnic benign neutropenia (ENP) is the most common form of neutropenia (NP) worldwide, if an absolute blood neutrophil count (ANC) of < 1.5 G/L is used as definition. In 2009, ENP was associated with a gene variation in the ACKR1/DARC gene, the same variation that also confers the Duffy-null trait. In 2017, a novel mechanism for ENP was introduced, questioning if ENP is a true neutropenic state, when the body's total neutrophil count (TBNC) is concerned. Here, we summarize the current knowledge of ENP, asking (1) How well does the peripheral blood ANC predict the TBNC? (2) Can we improve methods for assessing TBNC? (3) Will estimates of TBNC predict infection propensity and reduce the need for further, costly workup?

摘要

种族性良性中性粒细胞减少症(ENP)是全球最常见的中性粒细胞减少症(NP)形式,如果将绝对血液中性粒细胞计数(ANC)<1.5 G/L 作为定义。2009 年,ENP 与 ACKR1/DARC 基因的基因变异相关,该变异也赋予了 Duffy 阴性特征。2017 年,提出了一种针对 ENP 的新机制,质疑当涉及到身体的总中性粒细胞计数(TBNC)时,ENP 是否是真正的中性粒细胞减少状态。在这里,我们总结了 ENP 的现有知识,提出了以下问题:(1)外周血 ANC 能很好地预测 TBNC 吗?(2)我们能否改进评估 TBNC 的方法?(3)TBNC 的估计值是否会预测感染倾向并减少进一步、昂贵的检查的需要?

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