Assuntos
Ectima/imunologia , Doenças da Imunodeficiência Primária/diagnóstico , Infecções por Pseudomonas/imunologia , Pseudomonas aeruginosa/isolamento & purificação , Sepse/imunologia , Pele/patologia , Ectima/diagnóstico , Ectima/patologia , Evolução Fatal , Gangrena , Humanos , Lactente , Quinases Associadas a Receptores de Interleucina-1 , Masculino , Doenças da Imunodeficiência Primária/complicações , Infecções por Pseudomonas/diagnóstico , Infecções por Pseudomonas/patologia , Sepse/diagnóstico , Sepse/patologia , Pele/imunologia , Pele/microbiologiaRESUMO
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.
Assuntos
Deficiência de Proteína C/complicações , Tromboembolia/epidemiologia , Feminino , Predisposição Genética para Doença , Humanos , Recém-Nascido , Japão , Masculino , Deficiência de Proteína C/genética , Estudos Retrospectivos , Fatores de Risco , Inquéritos e Questionários , Tromboembolia/genéticaRESUMO
In this report, we describe a boy who showed mild symptoms of neonatal-onset multisystem inflammatory disease. Although his symptoms and laboratory findings were similar to those of systemic juvenile idiopathic arthritis, further examinations revealed papilledema, meningitis, and a NLRP3 mutation. His peripheral blood monocytes died within 24 hours after lipopolysaccharide stimulation, a test that may be useful for diagnosis even in mild cases.