Development of clinical paroxysmal nocturnal haemoglobinuria in children with aplastic anaemia
Development of clinical paroxysmal nocturnal haemoglobinuria in children with aplastic anaemia
复制标题
DOI：
10.1111/bjh.14790
复制
发表时间：
2017-09-01
影响因子：
6.5
通讯作者：
Kojima, Seiji
中科院分区：
文献类型：
--
作者：
Narita, Atsushi;Muramatsu, Hideki;Kojima, Seiji
再生障碍性贫血(AA)患儿阵发性睡眠性血红蛋白尿(PNH)的临床意义尚不清楚。我们对1992年至2010年间57名再生障碍性贫血儿童进行了回顾性研究。在随访期间，5名患者出现了临床PNH，其中体细胞PIGA突变通过靶向测序检测到。临床10年发展为PNH的概率为10.2%(95%可信区间，3.6-20.7%)。此外，在AA诊断时用流式细胞仪检测到微小的PNH克隆是临床PNH后续发展的一个危险因素。这些在AA诊断时有PNH克隆的患者应该定期监测潜在的临床PNH的发展。
The clinical significance of paroxysmal nocturnal haemoglobinuria (PNH) in children with aplastic anaemia (AA) remains unclear. We retrospectively studied 57 children with AA between 1992 and 2010. During the follow-up, five patients developed clinical PNH, in whom somatic PIGA mutations were detected by targeted sequencing. The 10-year probability of clinical PNH development was 10.2% (95% confidence interval, 3.6-20.7%). Furthermore, the detection of minor PNH clones by flow cytometry at AA diagnosis was a risk factor for the subsequent development of clinical PNH. These patients with PNH clones at AA diagnosis should undergo periodic monitoring for potential clinical PNH development.