KILT (kidney and IVC abnormalities with leg thrombosis) syndrome is a very rare condition that associates inferior vena cava abnormalities, renal defects, and venous thrombosis. These vascular disorders appear in 0.6-2 of patients with cardiovascular events and condition a venous stasis that contributes to the formation of thrombus in the lower limbs. Only a few cases of KILT syndrome have been published in the literature and the genesis, epidemiology, and natural history of the disease are yet unknown. We present a case of a 39-year-old man with no medical background who developed thrombosis of the inferior vena cava in its infrarrenal portion to both common iliac veins, all associated with agenesis of the rest of the vascular structure and an atrophic right kidney. The patient was treated with full anticoagulation, without the development of renal failure, postthrombotic syndrome, nor other complications. Thrombophilia study was normal, including mutations of prothrombin gene, factor V Leiden, and antiphospholipid antibodies. We hypothesize the benefit of an early diagnosis to improve the management of this condition. KILT syndrome must be taken into account in cases of proximal venous thrombosis, especially in young patients without risk factors for the development of thrombosis.
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机译:KILT(肾脏和静脉输液异常伴腿部血栓形成)综合征是一种非常罕见的疾病,与下腔静脉异常、肾脏缺陷和静脉血栓形成有关。这些血管疾病出现在0.6-2%的心血管事件患者中,并导致静脉淤滞,导致下肢血栓的形成。文献中仅发表了少数 KILT 综合征病例,该病的起源、流行病学和自然病程尚不清楚。我们介绍了一个没有医学背景的 39 岁男性病例,他发生下腔静脉下腔静脉血栓形成,包括双侧髂总静脉,均与其余血管结构发育不全和右肾萎缩有关。患者接受全面抗凝治疗,未发生肾功能衰竭、血栓后综合征或其他并发症。易栓症检查结果正常,包括凝血酶原基因、凝血因子 V Leiden 和抗磷脂抗体突变。我们假设早期诊断对改善这种疾病的管理有益。在近端静脉血栓形成的情况下,必须考虑KILT综合征,特别是在没有血栓形成危险因素的年轻患者中。
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