钻石黑范贫血队列中的皮尔逊综合征
Pearson syndrome in a Diamond-Blackfan anemia cohort.
作者信息
Alter Blanche P
机构信息
NATIONAL CANCER INSTITUTE.
出版信息
Blood. 2014 Jul 17;124(3):312-3. doi: 10.1182/blood-2014-04-571687.
Abstract
In this issue of Blood, Gagne et al describe a cohort of 362 patients clinically classified as having Diamond-Blackfan anemia (DBA), in which 175 (48%) were found to have mutations and deletions in ribosomal protein genes or GATA1, and 8 of the remaining patients (2.2% overall) had mitochondrial gene deletions consistent with Pearson marrow-pancreas syndrome (PS). The authors propose that all patients with presumptive DBA should be tested for mitochondrial DNA (mtDNA) deletion during their initial genetic evaluation.
摘要
在本期《血液》杂志中，加涅等人描述了一组362例临床诊断为先天性纯红细胞再生障碍性贫血（DBA）的患者，其中175例（48%）被发现核糖体蛋白基因或GATA1存在突变和缺失，其余患者中有8例（总体为2.2%）存在与 Pearson 骨髓-胰腺综合征（PS）一致的线粒体基因缺失。作者建议，所有疑似DBA的患者在初次基因评估时都应检测线粒体DNA（mtDNA）缺失情况。
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本文引用的文献
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Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.红细胞腺苷脱氨酶：诊断 Diamond-Blackfan 贫血的价值。
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Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry.Diamond Blackfan 贫血症中的肿瘤发生率：来自 Diamond Blackfan 贫血症登记处的报告。
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