Outcome and management of pregnancies in severe chronic neutropenia patients by the European Branch of the Severe Chronic Neutropenia International Registry
Outcome and management of pregnancies in severe chronic neutropenia patients by the European Branch of the Severe Chronic Neutropenia International Registry
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DOI：
10.3324/haematol.2013.099101
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发表时间：
2014-08-01
期刊：
影响因子：
10.1
通讯作者：
Welte, Karl
中科院分区：
文献类型：
--
作者：
Zeidler, Cornelia;Grote, Ulrike A. H.;Welte, Karl
已证明长期粒细胞集落刺激因子治疗对严重慢性中性粒细胞减少症患者安全有效。然而，关于其在怀孕期间使用的数据有限。为了解决这个问题，我们分析了自1994年以来向严重慢性中性粒细胞增多症国际登记处欧洲分支报告的所有妊娠。报告了21例慢性中性粒细胞减少症患者共38例妊娠（10例先天性中性粒细胞减少症患者中16例妊娠，6例周期性中性粒细胞减少症患者中10例妊娠，5例特发性中性粒细胞减少症患者中12例妊娠）。粒细胞集落刺激因子在整个怀孕期间管理的16名妇女和至少一个三个月的另外5名妇女。在妊娠结局、新生儿并发症和感染方面，治疗和未治疗的妇女之间没有重大差异。此外，我们还评估了16名母亲和8名男性的遗传传播，这些母亲有22名新生儿，这些男性有15名子女。作为遗传的证据，中性粒细胞减少症在58%的女性和62%的男性ELANE突变患者中遗传给新生儿，但也遗传给一些来自未知基因突变的父母的新生儿。根据我们的研究结果，粒细胞集落刺激因子治疗已被证明是安全的母亲在整个怀孕和新生儿没有任何致畸性的迹象。随着越来越多的成年患者，怀孕前的遗传咨询和怀孕期间母亲的支持性护理至关重要。接受受影响的儿童可能反映了由于这种治疗而获得的高生活质量。
Long-term granulocyte-colony stimulating factor treatment has been shown to be safe and effective in severe chronic neutropenia patients. However, data on its use during pregnancy are limited. To address this issue, we analyzed all pregnancies reported to the European branch of the Severe Chronic Neutropenia International Registry since 1994. A total of 38 pregnancies in 21 women with chronic neutropenia (16 pregnancies in 10 women with congenital, 10 in 6 women with cyclic, 12 in 5 women with idiopathic neutropenia) were reported. Granulocyte-colony stimulating factor was administered throughout pregnancy in 16 women and for at least one trimester in a further 5 women. No major differences were seen between treated and untreated women with respect to pregnancy outcome, newborn complications and infections. In addition, we evaluated the genetic transmission of known or suspected genetic defects in 16 mothers having 22 newborns as well as in 8 men fathering 15 children. As a proof of inheritance, neutropenia was passed on to the newborn in 58% from female and in 62% from male patients with ELANE mutations, but also to some newborns from parents with unknown gene mutation. Based on our results, granulocyte-colony stimulating factor therapy has been shown to be safe for mothers throughout pregnancies and for newborns without any signs of teratogenicity. With an increasing number of adult patients, genetic counseling prior to conception and supportive care of mothers during pregnancy are crucial. The acceptance of having affected children may reflect the high quality of life obtained due to this treatment.