静脉血栓形成的儿童伯基特淋巴瘤接受化疗:一个临床病例

Q3 Medicine
T. Lisitsa, E. Zhukovskaya, A. Ikonnikova, T. Nasedkina
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引用次数: 0

摘要

背景。静脉血栓在儿童早期极为罕见;然而,它作为一种常见和严重的并发症发生在儿童造血细胞病。该现象基本由主病相关凝血系统失衡、中心静脉导管长期使用、多药化疗所致;遗传易感性也有助于并发症的发展。临床病例描述。一名12岁的患者b被诊断患有伯基特淋巴瘤。化疗期间记录右颈内静脉及右锁骨下静脉血栓形成情况。特异性治疗结束后观察血栓复发情况。由于该患者有心血管和肿瘤疾病家族史,因此我们进行了分子遗传学分析,发现与血栓形成相关的等位基因变异存在于F2、F5、F9、F13A1、HABP2、HCF2、HRG、MTHFR、PLAT、PROC、PROS1、serpin1、THBD。F5基因Leiden杂合突变(C . 1601g >A)和编码蛋白C的PROC基因内含子变异(C .-21- 37g >A)。进行药物遗传学试验,以个性化抗凝和抗血小板治疗。检测遗传性血栓形成的遗传危险因素对于化疗患者血栓并发症的早期诊断至关重要。关键
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Venous Thrombosis in a Child with Burkitt Lymphoma Receiving Chemotherapy: A Clinical Case
Background. Venous thrombosis is extremely rare in children of early age; however, it occurs as a frequent and serious complication in children with hemoblastosis. The phenomenon is basically caused by the imbalance of blood coagulation system associated with the main disease, prolonged use of the central venous catheter, and polychemotherapy; hereditary predisposition contributes to the development of the complication as well. Clinical Case Description. A 12-year-old patient B. was diagnosed with Burkitt lymphoma. During chemotherapeutic treatment, the thrombosis of right internal jugular vein and right subclavian vein was registered. The thrombosis recurrence was observed at the end of specific therapy. The family history was burdened by cardiovascular and oncological diseases, consequently we performed the molecular-genetic analysis to reveal the presence of allelic variants associated with thrombophilia in the genes F2, F5, F9, F13A1, HABP2, HCF2, HRG, MTHFR, PLAT, PROC, PROS1, SERPINC1, THBD. The F5 gene Leiden mutation (c.1601G>A) in heterozygous state and intronic variant in the PROC gene encoding protein C (c.-21-37G>A) were revealed. The pharmacogenetic testing was conducted to personalize an ticoagulant and antiplatelet therapy.Conclusion. The detection of genetic risk factors for inherited thrombophilia is vital for early diagnostics of thrombotic complications in patients on chemotherapy. Key 
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来源期刊
Onkopediatria
Onkopediatria Medicine-Pediatrics, Perinatology and Child Health
CiteScore
0.60
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