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Arginine506 to glutamin mutation in the factor V gene in infancy and childhood: evidence of fibrinolytic impairment

Standard

Arginine506 to glutamin mutation in the factor V gene in infancy and childhood: evidence of fibrinolytic impairment. / Nowak-Göttl, U; Vielhaber, H; Grohmann, J; Schneppenheim, R; Koch, H G.

in: EUR J PEDIATR, Jahrgang 156, Nr. 3, 01.03.1997, S. 195-8.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Nowak-Göttl, U, Vielhaber, H, Grohmann, J, Schneppenheim, R & Koch, HG 1997, 'Arginine506 to glutamin mutation in the factor V gene in infancy and childhood: evidence of fibrinolytic impairment', EUR J PEDIATR, Jg. 156, Nr. 3, S. 195-8.

APA

Nowak-Göttl, U., Vielhaber, H., Grohmann, J., Schneppenheim, R., & Koch, H. G. (1997). Arginine506 to glutamin mutation in the factor V gene in infancy and childhood: evidence of fibrinolytic impairment. EUR J PEDIATR, 156(3), 195-8.

Vancouver

Nowak-Göttl U, Vielhaber H, Grohmann J, Schneppenheim R, Koch HG. Arginine506 to glutamin mutation in the factor V gene in infancy and childhood: evidence of fibrinolytic impairment. EUR J PEDIATR. 1997 Mär 1;156(3):195-8.

Bibtex

@article{e7a4ae5fc1294be69c36ad68d3c9f23b,
title = "Arginine506 to glutamin mutation in the factor V gene in infancy and childhood: evidence of fibrinolytic impairment",
abstract = "UNLABELLED: Resistance to activated protein C (APCR), in the majority of cases due to arginine506 (Arg506) to glutamine (Gln) mutation in the factor V gene, has emerged as the most important hereditary cause of venous thrombo-embolism. To determine to what extent this relatively common gene mutation influences the fibrinolytic system we investigated a population of APC resistant children (n = 65) in comparison with a control group of sex- and age-matched healthy children (n = 100). Compared to the controls, plasma levels of tissue-type plasminogen activator (t-PA), urokinase-type plasminogen activator (u-PA) and plasminogen activator inhibitor (PAI) 1 antigen, D-Dimer and enhanced thrombin generation were significantly (P < 0.0001) increased in children with the common factor V mutation. No difference was found between symptomatic and non-symptomatic children. Whether high concentrations of t-PA, u-PA and PAI 1 antigen can predict future vascular occlusion in children with APCR requires a more extensive multicentre study.CONCLUSION: Our data indicate that hypercoagulability in children with the Arg506 to Gln mutation in the factor V gene is mainly attributed to the genetic aetiology of the disease.",
keywords = "Adolescent, Arginine, Child, Child, Preschool, DNA Mutational Analysis, Factor V, Female, Fibrin Fibrinogen Degradation Products, Fibrinolysis, Genetic Predisposition to Disease, Glutamine, Heterozygote Detection, Homozygote, Humans, Infant, Infant, Newborn, Male, Oligopeptides, Protein C, Thrombin, Thrombophlebitis",
author = "U Nowak-G{\"o}ttl and H Vielhaber and J Grohmann and R Schneppenheim and Koch, {H G}",
year = "1997",
month = mar,
day = "1",
language = "English",
volume = "156",
pages = "195--8",
journal = "EUR J PEDIATR",
issn = "0340-6199",
publisher = "Springer",
number = "3",

}

RIS

TY - JOUR

T1 - Arginine506 to glutamin mutation in the factor V gene in infancy and childhood: evidence of fibrinolytic impairment

AU - Nowak-Göttl, U

AU - Vielhaber, H

AU - Grohmann, J

AU - Schneppenheim, R

AU - Koch, H G

PY - 1997/3/1

Y1 - 1997/3/1

N2 - UNLABELLED: Resistance to activated protein C (APCR), in the majority of cases due to arginine506 (Arg506) to glutamine (Gln) mutation in the factor V gene, has emerged as the most important hereditary cause of venous thrombo-embolism. To determine to what extent this relatively common gene mutation influences the fibrinolytic system we investigated a population of APC resistant children (n = 65) in comparison with a control group of sex- and age-matched healthy children (n = 100). Compared to the controls, plasma levels of tissue-type plasminogen activator (t-PA), urokinase-type plasminogen activator (u-PA) and plasminogen activator inhibitor (PAI) 1 antigen, D-Dimer and enhanced thrombin generation were significantly (P < 0.0001) increased in children with the common factor V mutation. No difference was found between symptomatic and non-symptomatic children. Whether high concentrations of t-PA, u-PA and PAI 1 antigen can predict future vascular occlusion in children with APCR requires a more extensive multicentre study.CONCLUSION: Our data indicate that hypercoagulability in children with the Arg506 to Gln mutation in the factor V gene is mainly attributed to the genetic aetiology of the disease.

AB - UNLABELLED: Resistance to activated protein C (APCR), in the majority of cases due to arginine506 (Arg506) to glutamine (Gln) mutation in the factor V gene, has emerged as the most important hereditary cause of venous thrombo-embolism. To determine to what extent this relatively common gene mutation influences the fibrinolytic system we investigated a population of APC resistant children (n = 65) in comparison with a control group of sex- and age-matched healthy children (n = 100). Compared to the controls, plasma levels of tissue-type plasminogen activator (t-PA), urokinase-type plasminogen activator (u-PA) and plasminogen activator inhibitor (PAI) 1 antigen, D-Dimer and enhanced thrombin generation were significantly (P < 0.0001) increased in children with the common factor V mutation. No difference was found between symptomatic and non-symptomatic children. Whether high concentrations of t-PA, u-PA and PAI 1 antigen can predict future vascular occlusion in children with APCR requires a more extensive multicentre study.CONCLUSION: Our data indicate that hypercoagulability in children with the Arg506 to Gln mutation in the factor V gene is mainly attributed to the genetic aetiology of the disease.

KW - Adolescent

KW - Arginine

KW - Child

KW - Child, Preschool

KW - DNA Mutational Analysis

KW - Factor V

KW - Female

KW - Fibrin Fibrinogen Degradation Products

KW - Fibrinolysis

KW - Genetic Predisposition to Disease

KW - Glutamine

KW - Heterozygote Detection

KW - Homozygote

KW - Humans

KW - Infant

KW - Infant, Newborn

KW - Male

KW - Oligopeptides

KW - Protein C

KW - Thrombin

KW - Thrombophlebitis

M3 - SCORING: Journal article

C2 - 9083758

VL - 156

SP - 195

EP - 198

JO - EUR J PEDIATR

JF - EUR J PEDIATR

SN - 0340-6199

IS - 3

ER -