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首页> 外文期刊>BMC Pediatrics >Intermittent low platelet counts hampering diagnosis of X-linked thrombocytopenia in children: report of two unrelated cases and a novel mutation in the gene coding for the Wiskott-Aldrich syndrome protein
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Intermittent low platelet counts hampering diagnosis of X-linked thrombocytopenia in children: report of two unrelated cases and a novel mutation in the gene coding for the Wiskott-Aldrich syndrome protein

机译：间歇性低血小板计数儿童X型血小板减少症的阻碍诊断：对Wiskott-Aldrich综合征蛋白的基因编码中的两个无关病例和新突变的报告

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Background Thrombocytopenia can occur in different circumstances during childhood and although immune thrombocytopenia is its most frequent cause, it is important to consider other conditions, especially when there is a persistent or recurrent low platelet count. We report two cases of intermittent thrombocytopenia, previously misdiagnosed as immune thrombocytopenia. Cases presentation Both cases described were boys who presented with an intermittent pattern of thrombocytopenia, with a persistently low mean platelet volume. In both patients, peripheral blood smear revealed small platelets and flow cytometry showed low expression of Wiskott-Aldrich syndrome protein (WASP) in leucocytes. Molecular analysis of the first case identified a mutation in exon 2 of the gene coding for WASP, leading to a p.Thr45Met amino acid change and confirming the diagnosis of X-linked thrombocytopenia. In the second case, a novel missense mutation in exon 2 of the gene coding for WASP was detected, which resulted in a p.Pro58Leu amino acid change. Conclusion These two rare presentations of thrombocytopenia highlight the importance of evaluating the peripheral blood smear in the presence of recurrent or persistent thrombocytopenia and show that failing to do so can lead to misdiagnoses. Since thrombocytopenia may be found in pediatric outpatient clinic, increased awareness among general pediatricians will help to improve the differential diagnosis of this condition.
机译：背景技术血小板减少症可以在儿童时期的不同情况下发生，但虽然免疫血小板减少症是其最常见的原因，但重要的是考虑其他条件，特别是当存在持续或复发的低血小板计数时。我们报告了两种间歇性血小板减少症，以前被误诊为免疫血小板减少症。病例介绍这两种病例都是呈现出血小板减少症的间歇性模式的男孩，具有持续低平均血小板体积。在两种患者中，外周血涂片揭示了小血小板，流式细胞术在白细胞中显示出Wiskott-Aldrich综合征蛋白（WASP）的低表达。第一种情况的分子分析确定了对黄蜂的基因编码的外显子2中的突变，导致p.Thrh45met氨基酸变化并确认X型血小板减少症的诊断。在第二种情况下，检测到用于黄蜂的基因的外显子2中的新型畸形突变，从而导致p.pro58Leu氨基酸变化。结论这两种稀有介绍血小板减少症突显了在发生复发或持续的血小板减少症存在下评估外周血涂片的重要性，并表明未能这样做可能导致误诊。由于血小板减少症可以在儿科门诊诊所中发现，因此普通儿科医生的意识增加将有助于改善这种情况的差异诊断。

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