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  • 1
    Electronic Resource
    Electronic Resource
    Inherited defects of the protein C anticoagulant system in childhood thrombo-embolism (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 921-927 
    Details
    ISSN: 1432-1076
    Keywords: Resistance to activated protein C (APCR) ; Protein C ; Protein S ; Childhood thrombo-embolism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Childhood thrombo-embolism is mostly the result of inherited thrombophilia or vascular insults combined with risk factors such as peripartal asphyxia, fetopathia diabetica, exsiccosis, septicaemia, central lines, congenital heart disease, cancer, trauma, surgery or elevated antiphospholipid antibodies. Inherited thrombophilia includes mainly defects of the protein C pathway, resistance to activated protein C, protein C or protein S deficiency. Resistance to activated protein C, in the majority of cases caused by the point mutation Arg 506 Gln of the factor V gene, has emerged as the most important hereditary cause of thrombo-embolism in adults and children. However, since an acquired risk of thrombo-embolic complications frequently masks the inherited deficiency in affected children, children with thrombo-embolism should have adequate laboratory evaluation for inherited coagulation disorders, especially the protein C pathway. Until more data on childhood thrombo-embolism are available, treatment recommendations will continue to be extrapolated from guidelines for adults.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02282879
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  • 2
    Electronic Resource
    Electronic Resource
    Prevalence of factor V Leiden in children with thrombo-embolism (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 1009-1014 
    Details
    ISSN: 1432-1076
    Keywords: Key words Factor V Leiden ; Protein C ; Protein S ; Thromboembolism ; Childhood
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Hereditary resistance to the anticoagulatory action of activated protein C (APC resistance, APCR) was identified as a possible new thrombophilic factor in a high percentage (17%–60%) of young adults with thrombotic events. A single missense mutation (R506Q) due to a G/A transition (G1691A) in exon 10 of the factor V gene is regarded as the causative molecular defect, resulting in factor V Leiden which is correlated with APCR. Identification of this mutation by polymerase chain reaction-based methods is easy to perform and prevents pre-analytical and analytical errors in the coagulometric assay for APCR. Since the impact of this mutation in children with thrombo-embolic disease has not been determined to date, we initiated a multi centre prevalence study in two paediatric populations, with and without thrombo-embolic events. We compared 125 paediatric patients with thrombosis, divided into three different age groups (0 to 〈 0.5 years; 〉 0.5 to 〈 10 years; 〉 10 to 〈 18 years) with a normal population of 159 children. Although the mutation G1691A was found with an unexpectedly high prevalence of 12% in our normal controls, the prevalence was significantly higher in the age groups: 0 to 〈 0.5 years (26%) and 〉 10 to 〈 18 years (30%). In patients between 〉 0.5 and 〈 10 years the overall prevalence was similar to that of the control group (13%). However, in patients of this age with spontaneous thrombosis, G1691A was also a significant risk factor (5/17 〉 29%). Homozygosity for G1691A was detected in three patients but not in the control group. Including deficiencies of protein C, protein S, antithrombin, and the presence of anti-phospholipid antibodies, thrombosis was correlated with endogenous thrombophilic factors in 38/125 patients (30.4%). Conclusion Our results emphasize the impact of factor V Leiden on thrombogenesis in children. However, the significance is age-dependent and may reflect the different physiology of haemostasis in the three age groups. The diagnostic workup of children with thrombosis should include tests for factor V Leiden. The correlation of factor V Leiden with the clinical course of thrombo-embolism in children is essential to establish rational guidelines for therapy and prophylaxis of APCR-related thrombosis which are not yet available.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050523
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
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