王琦, 王孜, 韩冰, 陈苗. 周期性血小板减少症伴周期性贫血一例[J]. 罕见病研究, 2022, 1(4): 435-439. DOI: 10.12376/j.issn.2097-0501.2022.04.012
引用本文: 王琦, 王孜, 韩冰, 陈苗. 周期性血小板减少症伴周期性贫血一例[J]. 罕见病研究, 2022, 1(4): 435-439. DOI: 10.12376/j.issn.2097-0501.2022.04.012
WANG Qi, WANG Zi, HAN Bing, CHEN Miao. A Case Report of Cyclic Thrombocytopenia with Periodic Anemia[J]. Journal of Rare Diseases, 2022, 1(4): 435-439. DOI: 10.12376/j.issn.2097-0501.2022.04.012
Citation: WANG Qi, WANG Zi, HAN Bing, CHEN Miao. A Case Report of Cyclic Thrombocytopenia with Periodic Anemia[J]. Journal of Rare Diseases, 2022, 1(4): 435-439. DOI: 10.12376/j.issn.2097-0501.2022.04.012

周期性血小板减少症伴周期性贫血一例

A Case Report of Cyclic Thrombocytopenia with Periodic Anemia

  • 摘要: 周期性血小板减少症(CTP)是一种罕见的出血性疾病,以皮肤黏膜出血及周期性血小板计数波动为特征。本文分析一例CTP患者的临床特征及治疗反应。该患者男性,30岁,反复皮肤黏膜出血5年。全身皮肤大量瘀点、口腔血疱、球结膜出血,通过追踪病史,监测血常规变化诊断为CTP,进一步检测网织血小板、促血小板生成素及骨髓巨核细胞随着血小板变化的周期性规律,证实该患者为周期性骨髓造血减少导致,并非外周破坏增多引起。同时观察到网织红细胞、促红细胞生成素、骨髓红系造血的周期性变化。该患者调节性T细胞水平正常,外周血有核细胞染色体端粒长度无明显缩短,全外显子组基因测序未发现明确致病基因突变。予重组人血小板生成素(rhTPO)治疗,患者血小板降低时间缩短,血小板最低值提高。对CTP的国内外相关文献资料进行复习,发现该类疾病平均起病年龄为35岁,部分患者有严重出血表现,半数以上的患者起病时误诊为原发免疫性血小板减少症,目前,发病机制尚未明确,且缺乏有效治疗方法。本例患者治疗经验提示,rhTPO可能有效。本例CTP合并周期性贫血为首例报道,对其发病机制的探索为了解CTP提供了重要的信息。

     

    Abstract: Cyclic thrombocytopenia (CTP) is a rare hemorrhagic disorder characterized by cutaneous and mucosal bleeding and periodic fluctuations platelet count. The clinical characteristics and treatment response of a patient with CTP were analyzed. The patient is a 30-year-old male with recurrent cutaneous and mucosal bleeding for 5 years. Skin petechiae, oral blood blister, conjunctival hemorrhage, by tracing the history, monitoring changes in blood routine diagnosis of CTP, further testing of reticulocyte platelets and platelet hormone, and periodically promoting bone marrow megakaryocyte with changes of platelet, confirmed that the patient's periodic reduction in bone marrow hematopoiesis, was causing more damage. Periodic changes of reticulocyte, erythropoietin and erythroid hematopoiesis in bone marrow were also observed. The patient had normal Treg levels, no significant telomere length shortening in peripheral blood nucleated cells, and no clear pathogenic gene mutation was found by whole exon gene sequencing. Recombinant human thrombopoietin(rhTPO) treatment shortened the time of thrombocytopenia and increased the minimum platelet value. The average age of onset of CTP was 35 years old, some patients had severe bleeding, and more than half of the patients were misdiagnosed as primary immune thrombocytopenia. At present, the pathogenesis of CTP has not been clarified and there is no effective treatment. The experience of this patient suggests that rhTPO may be effective. This case of CTP complicated with periodic anemia is the first report. The exploration of its pathogenesis provides important information for understanding CTP.

     

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