Vlachostergios Panagiotis J, Dufresne François
Department of Internal Medicine, Lutheran Medical Center, Brooklyn, New York, USA.
Blood Coagul Fibrinolysis. 2015 Jul;26(5):583-5. doi: 10.1097/MBC.0000000000000295.
Arterial thrombosis of the kidney(s) is a rare clinical entity usually presenting as a result of cardioembolic disease, though rare inherited hypercoagulable states have also been implicated. Within this context, both hyperhomocysteinemia triggered by a mutated methylenetetrahydrofolate reductase (MTHFR) gene product and the presence of antiphospholipid antibodies have been separately associated with arterial thrombotic events, including renal artery embolism. We present a case of combined homozygous MTHFR C677T mutation and IgA beta-2-glycoprotein antibody positivity resulting in acute renal infarction and previous silent myocardial infarction. An acute and otherwise unexplained thrombotic event of unusual location always warrants further investigation, which should include testing for hereditary thrombophilic disorders.
肾脏动脉血栓形成是一种罕见的临床病症，通常是由心源性栓塞性疾病引起，不过罕见的遗传性高凝状态也与之有关。在此背景下，由亚甲基四氢叶酸还原酶（MTHFR）基因突变产物引发的高同型半胱氨酸血症以及抗磷脂抗体的存在均分别与动脉血栓形成事件相关，包括肾动脉栓塞。我们报告一例合并纯合子MTHFR C677T突变和IgAβ2糖蛋白抗体阳性导致急性肾梗死及既往无症状心肌梗死的病例。发生在不寻常部位的急性且原因不明的血栓形成事件总是需要进一步检查，这应包括对遗传性易栓症的检测。
