Ge Meili, Shi Jun, Li Xingxin, Shao Yingqi, Huang Jinbo, Huang Zhendong, Zhang Jing, Nie Neng, Zheng Yizhou
State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Tianjin, PR China.
Acta Haematol. 2015;134(1):1-6. doi: 10.1159/000369773. Epub 2015 Mar 28.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease, especially in children. To characterize the clinical presentations and survival, we performed a retrospective analysis of pediatric patients.
We reviewed 55 pediatric patients with PNH referred to our hospital from January 1990 through June 2012 to assess clinical presentations, survival, and differences among subcategories.
The overall survival 10 years after diagnosis estimated via the Kaplan-Meier method was 77.6%. The cohort of patients was divided into subcategories of classic PNH, PNH/aplastic anemia (AA), and subclinical PNH (PNH-sc)/AA based on the recently proposed PNH working clinical classification. We found that patients with classic PNH and PNH/AA had larger PNH clones and many more parameters of hemolysis, but patients with PNH-sc/AA had smaller PNH clones, fewer parameters of hemolysis, and a higher rate of bone marrow failure. Our results revealed a high rate of bone marrow failure and a low rate of hemoglobinuria at presentation. Furthermore, thrombotic events were not observed in our patients, which is significantly different from the rate seen in Caucasian patients. Additionally, pediatric patients with PNH may develop bone marrow cytogenetic abnormalities.
This study provides insight into Chinese pediatric PNH patients and may aid in setting up individualized therapeutic regimens.
阵发性睡眠性血红蛋白尿（PNH）是一种罕见疾病，在儿童中尤为少见。为了描述其临床表现和生存率，我们对儿科患者进行了一项回顾性分析。
我们回顾了1990年1月至2012年6月转诊至我院的55例儿科PNH患者，以评估其临床表现、生存率及各亚类之间的差异。
通过Kaplan-Meier法估计，诊断后10年的总生存率为77.6%。根据最近提出的PNH临床工作分类，将患者队列分为典型PNH、PNH/再生障碍性贫血（AA）和亚临床PNH（PNH-sc）/AA亚类。我们发现，典型PNH和PNH/AA患者的PNH克隆较大，溶血参数更多，但PNH-sc/AA患者的PNH克隆较小，溶血参数较少，骨髓衰竭发生率较高。我们的结果显示，就诊时骨髓衰竭发生率高，血红蛋白尿发生率低。此外，我们的患者未观察到血栓事件，这与白种人患者的发生率有显著差异。此外，儿科PNH患者可能会出现骨髓细胞遗传学异常。
本研究为中国儿科PNH患者提供了见解，并可能有助于制定个体化治疗方案。
