Wannes S, Soua H, Ghanmi S, Braham H, Hassine M, Hamza H A, Ben Hamouda H, Sfar M-T
Service pédiatrie, CHU T.-Sfar, Mahdia, Tunisia.
Arch Pediatr. 2012 Apr;19(4):419-21. doi: 10.1016/j.arcped.2012.01.008. Epub 2012 Feb 21.
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).
肾静脉血栓形成(RVT)是一种罕见但可能严重的新生儿疾病。其流行病学以及临床和生物学表现目前已为人熟知,但其病因探索,如同静脉血栓栓塞症的病因探索一样,日益复杂。围产期危险因素,如早产、脱水和出生窒息,已不再直接构成病因,而是以它们与止血的体质性紊乱相互作用为代价。我们报告一例新生儿RVT病例,该新生儿是因子V莱顿和亚甲基四氢叶酸还原酶(MTHFR)基因突变的杂合携带者。我们回顾了其临床和流行病学特征。由于存在复发风险,对于患有静脉血栓形成的新生儿,应系统地筛查先天性凝血障碍,同时考虑围产期因素和母亲的血栓形成倾向(特别是如果RVT在产前就已确诊)。