a Pediatric Hematology and Oncology Unit, Oncology Department , A.R.N.A.S. Ospedali Civico, Di Cristina e Benfratelli , Palermo , Italy.
b Clinical and Experimental Hematology Unit, G. Gaslini Children's Hospital , Genova , Italy.
Expert Rev Hematol. 2018 Mar;11(3):239-246. doi: 10.1080/17474086.2018.1426454. Epub 2018 Jan 23.
Pearson syndrome (PS) is a sporadic and very rare syndrome classically associated with single large-scale deletions of mitochondrial DNA and characterized by refractory sideroblastic anemia during infancy. Areas covered: This review presents an analysis and interpretation of the published data that forms the basis for our understanding of PS. PubMed, Google Scholarand Thompson ISI Web of Knowledge were searched for relevant data. Expert commentary: PS is a very rare mitochodrial disease that involves different organs and systems. Clinical phenotype is extremely variable and may change over the course of disease itself with the possibility both of worsenings and improvements. Outcome is invariably lethal and at the moment no cure is available. Accurate supportive treatment and follow up program in centres with experience in mitochondrial diseases and marrow failure may positively influence quality and duration of life.
Pearson 综合征（PS）是一种散发性且非常罕见的综合征，经典表现为线粒体 DNA 的大片段缺失，并伴有婴儿期难治性铁幼粒细胞性贫血。
本综述对已发表数据进行了分析和解读，为我们理解 PS 提供了依据。通过 PubMed、Google Scholar 和 Thompson ISI Web of Knowledge 检索相关数据。
PS 是一种非常罕见的线粒体疾病，涉及不同的器官和系统。临床表现极其多样化，可能随着疾病本身的进程而发生变化，病情可能恶化也可能改善。该病的预后均为致死性，目前尚无治愈方法。在具有线粒体疾病和骨髓衰竭治疗经验的中心进行准确的支持性治疗和随访方案可能会积极影响生活质量和生存时间。
