Bone marrow failure in Shwachman-Diamond syndrome does not select for clonal haematopoiesis of the paroxysmal nocturnal haemoglobinuria phenotype
Bone marrow failure in Shwachman-Diamond syndrome does not select for clonal haematopoiesis of the paroxysmal nocturnal haemoglobinuria phenotype
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DOI：
10.1046/j.1365-2141.2002.03913.x
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发表时间：
2002-12-01
影响因子：
6.5
通讯作者：
Bessler, M
中科院分区：
文献类型：
--
作者：
Keller, P;Debaun, MR;Bessler, M
骨髓衰竭被认为是阵发性睡眠性血红蛋白尿症（PNH）克隆扩张的基础条件。事实上，已在获得性再生障碍性贫血和发育不良性骨髓增生异常患者中鉴定出循环PNH血细胞。PNH血细胞是否也存在于遗传性再生障碍性贫血患者中尚未报道。我们筛选了一大群被诊断为Shwachman-Diamond综合征（SDS）的PNH血细胞患者。分析的患者均未检测到循环PNH血细胞，表明SDS中的骨髓衰竭不会选择PNH祖细胞。
Bone marrow failure is believed to be the underlying condition that drives the expansion of the paroxysmal nocturnal haemoglobinuria (PNH) clone. Indeed, circulating PNH blood cells have been identified in patients with acquired aplastic anaemia and with hypoplastic myelodysplasia. Whether PNH blood cells are also present in patients with inherited aplastic anaemia has not been reported. We screened a large group of patients diagnosed with Shwachman-Diamond Syndrome (SDS) for PNH blood cells. None of the patients analysed had detectable circulating PNH blood cells, indicating that bone marrow failure in SDS does not select for PNH progenitor cells.