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

Naoki Egami,Masayuki Ochiai,Masako Ichiyama,Hirosuke Inoue,Motoshi Sonoda,Masataka Ishimura,Souichi Suenobu,Toshiya Nishikubo,Akira Ishiguro,Taeko Hotta,Takeshi Uchiumi,Dongchon Kang,Shouichi Ohga

The Journal of Pediatrics（2021）

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摘要

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.

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关键词

protein C,protein S,antithrombin,purpura fulminans,newborn infants,thrombophilia

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