Guinan Eva C
Dana-Farber Cancer Inst., 44 Binney Street, Room D354, Boston, MA 02115, USA.
Hematology Am Soc Hematol Educ Program. 2005:104-9. doi: 10.1182/asheducation-2005.1.104.
Aplastic anemia is a term describing the common findings of pancytopenia and marrow hypoplasia arising from a variety of disease states, including acquired aplastic anemia and a variety of congenital marrow failure states. The management of children with these disorders has been confounded by difficulties of diagnosis. The availability of molecular testing has assisted in partial resolution of this problem but has raised new issues, such as the potential of genetic predisposition and the management of asymptomatic individuals with molecular markers. Longitudinal data from large cohort studies and disease registries are providing a rational basis for making more informed treatment decisions for children with these disorders. In particular, the ability to subset patients more accurately has improved triage of treatments. Approaches to hematopoietic stem cell transplantation (SCT), using both conventional and alternative donors, are changing rapidly, and the long-term sequelae of newer approaches are not entirely clear. Improved diagnosis and longer survival have fostered an understanding of the multidisciplinary approach necessary to manage both the underlying problems and the significant sequelae of treatment in both acquired and congenital disease.
再生障碍性贫血是一个术语，用于描述由多种疾病状态引起的全血细胞减少和骨髓发育不全的常见表现，包括获得性再生障碍性贫血和多种先天性骨髓衰竭状态。这些疾病患儿的治疗因诊断困难而受到困扰。分子检测的应用有助于部分解决这一问题，但也引发了新的问题，如遗传易感性的可能性以及对有分子标志物的无症状个体的管理。来自大型队列研究和疾病登记处的纵向数据为这些疾病患儿做出更明智的治疗决策提供了合理依据。特别是，更准确地对患者进行亚组分类的能力改善了治疗的分诊。使用传统供体和替代供体的造血干细胞移植（SCT）方法正在迅速变化，新方法的长期后遗症尚不完全清楚。诊断的改善和生存期的延长促进了对管理获得性和先天性疾病的潜在问题及治疗重大后遗症所需的多学科方法的理解。
