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首页> 外文期刊>Clinical advances in hematology & oncology: H&O >Cyclic and chronic neutropenia: an update on diagnosis and treatment.
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Cyclic and chronic neutropenia: an update on diagnosis and treatment.

机译:循环和慢性嗜中性白血球减少症:一个更新诊断和治疗。

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DD Cyclic neutropenia is a rare disease in which neutro-phils and other white blood cell counts fluctuate, usually on a 21 -day cycle. When the neutrophil count is low-and it can go down to 0 cells/muL-patients are very susceptible to infections. It is a terrible disease because patients are at risk of contracting a severe or even life-threatening infection every 3 weeks throughout their lives. Cyclic neutropenia is an autosomal-dominant disease. Multiple family members in each generation can have the disease; sometimes half the members of a family are affected. Neutropenia and its associated infections and risk of death lead to substantial medical care and hospitalization.The cause of cyclic neutropenia is almost always a mutation in ELANE, the gene that encodes neutrophil elastase. This gene is for an enzyme that is produced and packaged in the primary granules of neutrophils. The mutation causes the production of, an abnormal protein that damages the cells as they develop, leading to a failure of cell production. Among the many different mutations that can occur, some are associated with cycling of blood counts. This manifestation is probably a milder abnormality than that associated with severe congenital neutropenia, in which mutations are so severe that patients have very low blood counts all the time.
机译:DD循环嗜中性白血球减少症是一种罕见的疾病neutro-phils和其他白细胞计数波动,通常在一个21天的时间周期。嗜中性粒细胞计数是低收入和它可以下降为0细胞/ muL-patients非常容易感染。病人是一个严重或感染的风险每3周甚至危及生命的感染在他们的生活。常染色体显性遗传疾病。在每一代成员可以有疾病;有时一个家庭成员的一半受到影响。感染和死亡的风险导致实质性的医疗和住院治疗。循环嗜中性白血球减少症几乎总是突变ELANE,中性粒细胞弹性蛋白酶的基因编码。这个基因是一种酶,这种酶生产和包装在初选中中性粒细胞的颗粒。突变引起的生产,一个异常蛋白质,损害的细胞细胞生产的发展,导致失败。在许多不同的基因突变发生,有些是与血液循环有关计数。比与严重异常先天性中性粒细胞减少,突变是如此严重的病人血液数量非常低所有的时间。

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