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Clinical Impact of Heritable Thrombophilia on Neonatal-Onset Thromboembolism: A Nationwide Study in Japan.
Egami, Naoki; Ochiai, Masayuki; Ichiyama, Masako; Inoue, Hirosuke; Sonoda, Motoshi; Ishimura, Masataka; Suenobu, Souichi; Nishikubo, Toshiya; Ishiguro, Akira; Hotta, Taeko; Uchiumi, Takeshi; Kang, Dongchon; Ohga, Shouichi.
Afiliação
  • Egami N; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Ochiai M; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. Electronic address: ochimasa@pediatr.med.kyushu-u.ac.jp.
  • Ichiyama M; Division of Neonatology, Fukuoka Children's Hospital, Fukuoka, Japan.
  • Inoue H; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Sonoda M; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Ishimura M; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Suenobu S; Division of General Pediatrics and Emergency Medicine, Department of Pediatrics, Oita University Faculty of Medicine, Oita, Japan.
  • Nishikubo T; Division of Neonatal Intensive Care, Center of Maternal-Fetal Medicine, Nara Medical University, Nara, Japan.
  • Ishiguro A; Center for Postgraduate Education and Training, National Center for Child Health and Development, Tokyo, Japan.
  • Hotta T; Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, Japan.
  • Uchiumi T; Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, Japan.
  • Kang D; Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, Japan.
  • Ohga S; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
J Pediatr ; 238: 259-267.e2, 2021 Nov.
Article em En | MEDLINE | ID: mdl-34245770
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tromboembolia / Deficiência de Proteína C Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male / Newborn País/Região como assunto: Asia Idioma: En Revista: J Pediatr Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Japão País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tromboembolia / Deficiência de Proteína C Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male / Newborn País/Região como assunto: Asia Idioma: En Revista: J Pediatr Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Japão País de publicação: Estados Unidos