Venous Thromboembolism Unit, Internal Medicine, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Instituto de investigación sanitaria Gregorio Marañón, Madrid, Spain.
J Cardiovasc Transl Res. 2020 Aug;13(4):629-631. doi: 10.1007/s12265-019-09935-9. Epub 2019 Nov 26.
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.
KILT（肾和下腔静脉异常伴腿部血栓形成）综合征是一种非常罕见的疾病，其特征为下腔静脉异常、肾脏缺陷和静脉血栓形成。这些血管疾病出现在 0.6-2%的心血管事件患者中，导致静脉淤滞，从而促进下肢血栓形成。KILT 综合征在文献中仅有少数报道，其发病机制、流行病学和自然史尚不清楚。我们报告了 1 例 39 岁无病史的男性患者，其肾下腔静脉及其左右髂总静脉均发生血栓形成，同时伴有其余血管结构发育不良和右肾萎缩。患者接受了充分的抗凝治疗，未发生肾功能衰竭、血栓后综合征或其他并发症。血栓形成倾向研究正常，包括凝血酶原基因、因子 V Leiden 和抗磷脂抗体突变。我们假设早期诊断可改善该疾病的治疗效果。在近端静脉血栓形成，特别是无血栓形成危险因素的年轻患者中，应考虑 KILT 综合征。
