GATA2 缺乏症：早期识别以改善临床结局
GATA2 Deficiency: Early Identification for Improved Clinical Outcomes.
作者信息
Cole Kristen, Avila Daniele, Parta Mark, Schuver Bazetta, Holland Steven, Shah Nirali, Hickstein Dennis
机构信息
Center for Cancer Research at the National Cancer Institute.
Frederick National Laboratory for Cancer Research.
出版信息
Clin J Oncol Nurs. 2019 Aug 1;23(4):417-422. doi: 10.1188/19.CJON.417-422.
BACKGROUND
Patients with GATA2 deficiency present with nontuberculous mycobacterial infections, severe viral infections (particularly refractory human papillomavirus disease), lymphedema, myelodysplastic syndrome (MDS), and acute myeloid leukemia. Patients with GATA2 deficiency who undergo allogeneic hematopoietic stem cell transplantation prior to the development of life-threatening infections or cytogenetic abnormalities may have optimal clinical outcomes.
OBJECTIVES
The aim of this article is to determine ways in which oncology nurses can identify GATA2 deficiency in patients early and optimize treatment decisions.
METHODS
A case study is presented of a 33-year-old man with recurrent infections and MDS and his two sons, all of whom were found to have the same GATA2 mutation.
FINDINGS
Oncology nurses play an important role in early detection and identification by interviewing patients and obtaining a complete and thorough family history.
背景
GATA2缺乏症患者会出现非结核分枝杆菌感染、严重病毒感染（尤其是难治性人乳头瘤病毒病）、淋巴水肿、骨髓增生异常综合征（MDS）和急性髓系白血病。在出现危及生命的感染或细胞遗传学异常之前接受异基因造血干细胞移植的GATA2缺乏症患者可能会有最佳的临床结局。
目的
本文旨在确定肿瘤护理人员能够早期识别患者GATA2缺乏症并优化治疗决策的方法。
方法
本文介绍了一名患有复发性感染和MDS的33岁男性及其两个儿子的病例研究，他们均被发现具有相同的GATA2突变。
结果
肿瘤护理人员通过询问患者并获取完整详尽的家族史，在早期检测和识别中发挥着重要作用。
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