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阵发性夜间血红蛋白尿症在血小板减少症鉴别诊断中的应用

Paroxysmal Nocturnal Hemoglobinuria in the Differential Diagnosis of Thrombocytopenia.

作者信息

Gediz Fusun, Payzin Bahriye Kadriye, Cakmak Ozlem Zekiye, Uzum Yusuf, Ernur Damla, Sahin Fahri

机构信息

Department of Hematology, Izmir Katip Celebi University Ataturk Training and Research Hospital, Izmir.

PNH Education and Study Gruop, Izmir.

出版信息

Hematol Rep. 2017 Mar 22;9(1):6862. doi: 10.4081/hr.2017.6862. eCollection 2017 Feb 23.

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is a disease which diagnosis may be delayed due to variable clinical findings. We describe herein a case of PNH in a 21 year old woman who admitted with complaints of chronic weakness, intermittent spontaneous ecchymoses, and an intermittent abdominal pain. On laboratory tests thrombocytopenia and iron deficiency anemia without any clinical findings were found. Flow cytometric evaluations showed a PNH clone of 15% for erythrocytes, 64% for monocytes, and 60% for granulocytes. The patient was diagnosed with PNH and an eculizumab therapy was initiated. Following initiation of eculizumab therapy, the frequency of abdominal pain attacks decreased, hemoglobin level normalized, and platelet values increased slightly. In patients submitting with a triad of symptoms such as thrombocytopenia, iron deficiency anemia, and abdominal pain attacks of unknown etiology we suggest considering PNH. We also encourage physicians to share their similar observations in order to raise the knowledge on infrequent presentations of PNH.

摘要

阵发性夜间血红蛋白尿(PNH)是一种由于临床表现多样而可能导致诊断延迟的疾病。我们在此描述一例21岁女性的PNH病例,该患者因慢性虚弱、间歇性自发性瘀斑和间歇性腹痛入院。实验室检查发现血小板减少和缺铁性贫血,但无任何临床表现。流式细胞术评估显示红细胞的PNH克隆为15%,单核细胞为64%,粒细胞为60%。该患者被诊断为PNH并开始接受依库珠单抗治疗。依库珠单抗治疗开始后,腹痛发作频率降低,血红蛋白水平恢复正常,血小板值略有升高。对于出现血小板减少、缺铁性贫血和病因不明的腹痛发作等三联征症状的患者,我们建议考虑PNH。我们还鼓励医生分享他们的类似观察结果,以提高对PNH罕见表现的认识。

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Blood. 2015 Nov 26;126(22):2459-65. doi: 10.1182/blood-2015-06-640995. Epub 2015 Nov 18.
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Eculizumab for paroxysmal nocturnal haemoglobinuria.依库珠单抗用于治疗阵发性夜间血红蛋白尿症。
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