Bhalla Anil K, Bhargava Vinant, Meena Priti, Bhoiyar Ashish, Yadav Ajay, Rana Devinder S
Department of Nephrology, Institute of Renal Science, Sir Gangaram Hospital, New Delhi, India.
Indian J Nephrol. 2020 Sep-Oct;30(5):326-328. doi: 10.4103/ijn.IJN_65_20. Epub 2020 Aug 27.
We present this rare case of hyperhomocysteinemia due to a mutation in methylene-tetrahydrofolate-reductase (MTFHR) combined with plasminogen activator inhibitor deficiency, causing bilateral renal artery thrombosis. This case highlights the importance of genetic screening in individuals with a family history of thrombotic diseases. There seems to be a role of intervention, even in the setting of renal infarction.
我们报告了这例罕见的高同型半胱氨酸血症病例,其由亚甲基四氢叶酸还原酶(MTFHR)突变联合纤溶酶原激活物抑制剂缺乏所致,引发双侧肾动脉血栓形成。该病例凸显了对有血栓性疾病家族史个体进行基因筛查的重要性。即便在肾梗死的情况下,干预似乎也能发挥作用。