...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>British Journal of Haematology >Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia
【24h】

Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia

机译：瑞典严重先天性中性粒细胞减少症的发病率和发展为骨髓增生异常综合症/白血病的风险

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Severe congenital neutropenia (SCN) is characterized by low blood neutrophil counts, early bacterial infections, and risk of leukaemia development. As yet, no population-based incidence estimates of SCN have been reported. Children less than 16 years of age with SCN were sought in Sweden during the 20-year period 1987-2006 by a questionnaire to all Swedish Departments of Paediatrics and by reviewing the Swedish Health and Welfare Statistical Databases. Thirty-two patients were diagnosed with congenital neutropenia during this period. All received treatment with recombinant granulocyte-colony stimulating factor (G-CSF). Twenty-one patients were diagnosed as SCN or probable SCN, corresponding to 1·0 per 100 000 live births. Nine (43%) had ELANE mutations, four (19%) HAX1 mutations and eight (38%) were children with disease of unknown genetic aetiology. Four out of 21 patients (19%) developed myelodysplastic syndrome/leukaemia and three (14%) died, all with leukaemia. The cumulative incidence of myelodysplastic syndrome/leukaemia was 31%. The observed incidence of SCN in this population-based study was higher than previously estimated, possibly because genetic testing now can identify SCN cases previously thought to be idiopathic or benign neutropenia. The risk of developing myelodysplastic syndrome/leukaemia is considerable. ELANE mutations are the most commonly identified genetic defects.
机译：严重的先天性中性粒细胞减少症（SCN）的特征是血液中性粒细胞计数低，早期细菌感染和发生白血病的风险。迄今为止，尚无关于SCN的基于人群的发病率估计数的报道。在1987年至2006年的20年期间，瑞典通过向所有瑞典儿科部门进行问卷调查，并审查了瑞典的健康和福利统计数据库，寻求16岁以下的SCN儿童。在此期间，有32例患者被诊断为先天性中性粒细胞减少。所有患者均接受重组粒细胞集落刺激因子（G-CSF）治疗。 21位患者被诊断为SCN或可能的SCN，相当于每10万活产中1·0。九名（43％）患有ELANE突变，四名（19％）HAX1突变，八名（38％）儿童患有遗传病因不明。 21名患者中有4名（19％）患了骨髓增生异常综合症/白血病，三名（14％）死亡，均患有白血病。骨髓增生异常综合症/白血病的累积发生率为31％。在这项基于人群的研究中，观察到的SCN发生率高于先前的估计，这可能是因为基因检测现在可以识别先前认为是特发性或良性中性粒细胞减少的SCN病例。发生骨髓增生异常综合症/白血病的风险相当大。 ELANE突变是最常见的遗传缺陷。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号