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遗传性血栓形成倾向对新生儿期起病的血栓栓塞症的临床影响:日本的一项全国性研究。

Clinical Impact of Heritable Thrombophilia on Neonatal-Onset Thromboembolism: A Nationwide Study in Japan.

机构信息

Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

出版信息

J Pediatr. 2021 Nov;238:259-267.e2. doi: 10.1016/j.jpeds.2021.07.001. Epub 2021 Jul 8.

Abstract

OBJECTIVE

To clarify the incidence and genetic risk of neonatal-thromboembolism, we conducted a nationwide study exploring the impact of thrombophilia on neonatal-thromboembolism in Japan.

STUDY DESIGN

A questionnaire survey was conducted for perinatal centers in Japan, focusing on the clinical expression, genotype, treatment, and outcome of patients who developed thromboembolism within 28 days of birth from 2014 to 2018.

RESULTS

The estimated incidence of neonatal-thromboembolism was 0.39 cases per 10 000 live births. Intracranial lesions and purpura fulminans occurred in 66 and 5 of 77 patients, respectively. Fifty-eight (75.3%) infants presented within 3 days after birth. Four (5.2%) died, and 14 (18.2%) survived with disability. At the diagnosis, <20% plasma activity of protein C was noted in 16 infants, protein S (in 2), and antithrombin (in 1). Thirteen genetic tests identified 4 biallelic and 5 monoallelic protein C-variants but no protein S- or antithrombin-variants. Protein C-variants had purpura fulminans (P < .01), ocular bleeding (P < .01), positive-family history (P = .01), and death or disability (P = .03) more frequently than others. Protein C-variants were independently associated with disability (OR 5.74, 95% CI 1.16-28.4, P = .03) but not death. Four biallelic variants had serious thrombotic complications of neurologic disability, blindness, and/or amputation. Three monoallelic variants survived without complications. The only protein C-variant death was an extremely preterm heterozygote infant.

CONCLUSIONS

Monoallelic protein C-variants had a higher incidence of neonatal-thromboembolism than biallelic variants. Thrombophilia genetic testing should be performed in the setting of neonatal-thromboembolism and low protein C to identify the underlying genetic defect.

摘要

目的

为了阐明新生儿血栓栓塞的发病率和遗传风险,我们进行了一项全国性研究,探讨了血栓形成倾向对日本新生儿血栓栓塞的影响。

研究设计

我们对日本围产期中心进行了问卷调查,重点关注 2014 年至 2018 年期间出生后 28 天内发生血栓栓塞的患者的临床表现、基因型、治疗和结局。

结果

新生儿血栓栓塞的估计发病率为每 10000 例活产儿 0.39 例。77 例患者中有 66 例出现颅内病变,5 例出现暴发性紫癜。58(75.3%)例婴儿在出生后 3 天内出现症状。4 例(5.2%)死亡,14 例(18.2%)存活但有残疾。在诊断时,16 例婴儿的血浆蛋白 C 活性<20%,2 例蛋白 S,1 例抗凝血酶。13 项基因检测发现 4 种双等位基因和 5 种单等位基因蛋白 C 变异体,但未发现蛋白 S 或抗凝血酶变异体。蛋白 C 变异体更易发生暴发性紫癜(P<.01)、眼部出血(P<.01)、阳性家族史(P=.01)和死亡或残疾(P=.03),而非蛋白 C 变异体。蛋白 C 变异体与残疾独立相关(OR 5.74,95%CI 1.16-28.4,P=.03),但与死亡无关。4 种双等位基因变异体均有严重的血栓并发症,包括神经功能障碍、失明和/或截肢。3 种单等位基因变异体存活且无并发症。唯一的蛋白 C 变异体死亡是一名极其早产的杂合子婴儿。

结论

单等位基因蛋白 C 变异体的新生儿血栓栓塞发病率高于双等位基因变异体。在新生儿血栓栓塞和蛋白 C 降低的情况下,应进行血栓形成倾向的遗传检测,以确定潜在的遗传缺陷。

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