Design of a prospective neonatal cohort study of homozygous and double heterozygous factor V Leiden and factor II G20210A.
Klin Padiatr
; 212(4): 159-62, 2000.
Article
em En
| MEDLINE
| ID: mdl-10994543
ABSTRACT
BACKGROUND:
Factor V Leiden (FVL) and Factor II (FII) G20210A represent common risk factors for thromboembolic (TE) events. In children, both venous and arterial TE-events have been associated with the presence of FVL and FII G20210A. In most heterozygous children with TE-events other prothrombotic factors can usually be identified. Case reports of children with homozygous FVL, including 3 patients described here, suggest that this genotype may convey a particulary high risk. However, prospective data about the type and frequency of TE-events in such children are lacking. STUDYDESIGN:
We have initiated a prospective neonatal cohort study for the homozygous and double heterozygous genotypes for FVL and FII G20210A. The probands and the heterozygous controls are identified by neonatal screening that involves > 98% of the children born in Berlin and are followed up in a special out-patient clinic to document details of the clinical history, developmental parameters and the occurrence of TE-events.CONCLUSIONS:
This study will provide controlled and unbiased information about the clinical significance of the homozygous and double heterozygous genotypes of these mutations.
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Coleções:
01-internacional
Contexto em Saúde:
2_ODS3
Base de dados:
MEDLINE
Assunto principal:
Transtornos da Coagulação Sanguínea
/
Fator V
/
Protrombina
/
Testes Genéticos
/
Trombose Intracraniana
Tipo de estudo:
Etiology_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
País/Região como assunto:
Europa
Idioma:
En
Revista:
Klin Padiatr
Ano de publicação:
2000
Tipo de documento:
Article