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Archives de pédiatrie
Volume 19, n° 4
pages 419-421 (avril 2012)
Doi : 10.1016/j.arcped.2012.01.008
Received : 18 April 2011 ;  accepted : 16 January 2012
Thrombose néonatale de la veine rénale et double hétérozygotie pour la mutation du facteur V de Leiden et du gène de la MTHFR
Neonatal renal vein thrombosis in a heterozygous carrier of both factor V Leiden and the MTHFR gene mutation
 

S. Wannes a, , H. Soua a, S. Ghanmi a, H. Braham b, M. Hassine c, H.A. Hamza d, H. Ben Hamouda a, M.-T. Sfar a,
a Service pédiatrie, CHU T.-Sfar, Mahdia, Tunisie 
b Service des laboratoires, CHU T.-Sfar, Mahdia, Tunisie 
c Laboratoire hématologie, CHU F.-Bourguiba, Monastir, Tunisie 
d Service radiologie, CHU T.-Sfar, Mahdia, Tunisie 

Auteur correspondant.Co-auteur correspondant.
Résumé

La thrombose veineuse rénale (TVR) néonatale est une affection rare, mais potentiellement grave. Son épidémiologie et son expression clinico-biologique sont actuellement mieux connues. Les facteurs de risque périnatals comme la prématurité, la déshydratation, l’anoxie périnatale ont perdu leur imputabilité directe au dépend de leur interaction potentielle avec des troubles constitutionnels de l’hémostase. Nous rapportons une observation de TVR chez un nouveau-né, porteur d’une double mutation à l’état hétérozygote, pour le facteur V de Leiden et le gène de la méthylène tetrahydrofolate réductase (MTHFR). Nous rappelons les caractéristiques cliniques et épidémiologiques de cette affection. Toute thrombose néonatale, survenant en dehors d’un contexte favorisant bien défini, impose une enquête familiale et une étude de l’hémostase du patient à la recherche de facteurs biologiques prédisposant et exposant le patient à un risque de récidive.

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Summary

Renal vein thrombosis (RVT) is a rare but potentially serious neonatal disease. Its epidemiology and its clinical and biological expression are currently well known, but its etiological exploration, like that of venous thromboembolism, is increasingly complex. Perinatal risk factors such as prematurity, dehydration, and birth asphyxia have lost their direct accountability at the expense of their interaction with constitutional disorders of hemostasis. We report a case of RVT in a newborn who was a heterozygous carrier of both factor V Leiden and the methylene tetrahydrofolate reductase (MTHFR) gene mutation. We recall the clinical and epidemiological characteristics. A search for inborn blood coagulation disorders should be systematic in the newborn infant with venous thrombosis because of the risk of recurrence, taking into account perinatal factors and maternal thrombophilia (especially if RVT is established during the prenatal period).

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