急性早幼粒细胞白血病合并遗传性纤维蛋白原缺陷症一例并文献复习  

Acute promyelocytic leukemia combined with hereditary fibrinogen deficiency:report of one case and review of literature

作　　者：孙翔 张家奎 叶倩舲 李迎伟 翟志敏 Sun Xiang;Zhang Jiakui;Ye Qianling;Li Yingwei;Zhai Zhimin(Department of Hematology,the Second Affiliated Hospital of Anhui Medical University,Hematologic Diseases Research Center of Anhui Medical University,Hefei 230601,China)

机构地区：[1]安徽医科大学第二附属医院血液科安徽医科大学血液病研究中心,合肥230601

出　　处：《白血病．淋巴瘤》2021年第5期286-289,共4页Journal of Leukemia & Lymphoma

基　　金：国家自然科学基金(81670179);安徽省高校自然科学研究重点项目(KJ2019A0274)。

摘　　要：目的提高对遗传性纤维蛋白原缺陷症的认识。方法回顾性分析安徽医科大学第二附属医院2018年12月收治的1例急性早幼粒细胞白血病(APL)合并遗传性纤维蛋白原缺陷症患者的诊疗过程,并复习相关文献。结果患者初诊确诊为APL,给予全反式维甲酸和亚砷酸双诱导治疗后获得完全缓解,但在第1次巩固治疗期间多次复查纤维蛋白原波动于1.0~1.5 g/L,进一步完善纤维蛋白原基因测序,诊断为APL合并遗传性纤维蛋白原缺陷症。结论对于多次检测纤维蛋白原均下降的APL缓解期患者和短期内纤维蛋白原显著降低的遗传性纤维蛋白原缺陷症患者,均应进一步完善骨髓穿刺、基因检测等相关检查明确病因。Objective To improve the clinical recognition of hereditary fibrinogen deficiency.Methods The diagnosis and treatment process of a patient with acute promyelocytic leukemia(APL)complicated with hereditary fibrinogen deficiency who was admitted to the second Affiliated Hospital of Anhui Medical University in December 2018 was retrospectively analyzed,and the relevant literature was reviewed.Results The patient was initially diagnosed as APL,and the complete remission was obtained after dual⁃induction therapy of all⁃trans retinoid acid and arsenous acid.During the first consolidation treatment,repeated reviews of fibrinogen fluctuated between 1.0-1.5g/L,and further improving the fibrinogen gene sequencing to diagnose APL combined with hereditary fibrinogen deficiency.Conclusion For APL patients in remission who have decreased fibrinogen for many times and patients with hereditary fibrinogen deficiency who have significantly decreased fibrinogen in a short period,bone marrow biopsy and genetic testing should be further conducted to determine the pathogenesis.

关 键 词：白血病 早幼粒细胞 急性 遗传性 纤维蛋白原缺陷症 

分 类 号：R733.71[医药卫生—肿瘤]