title: [Neonatal renal vein thrombosis in a heterozygous carrier of both factor V Leiden and the MTHFR gene mutation].
abstract: 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).
authors.affiliation: Service pédiatrie, CHU T.-Sfar, Mahdia, Tunisia. WSelmen@gmail.com
authors.forename: S
authors.initials: S
authors.lastname: Wannes
authors.forename: H
authors.initials: H
authors.lastname: Soua
authors.forename: S
authors.initials: S
authors.lastname: Ghanmi
authors.forename: H
authors.initials: H
authors.lastname: Braham
authors.forename: M
authors.initials: M
authors.lastname: Hassine
authors.forename: H A
authors.initials: HA
authors.lastname: Hamza
authors.forename: H
authors.initials: H
authors.lastname: Ben Hamouda
authors.forename: M-T
authors.initials: MT
authors.lastname: Sfar
mesh_terms: D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005165:Factor V / Q000235:genetics*; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006710:Homocysteine / Q000097:blood / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D012082:Renal Veins; D019851:Thrombophilia / Q000175:diagnosis / Q000235:genetics; D020246:Venous Thrombosis / Q000175:diagnosis / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D006710:Homocysteine; D005165:Factor V; D042965:Methylenetetrahydrofolate Reductase (NADPH2)