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亚甲基四氢叶酸还原酶A1298C和纤溶酶原激活物抑制剂-1突变继发双侧急性肾梗死

Bilateral Acute Renal Infarction Secondary to Methylene Tetrahydrofolate Reductase A1298C and PAI-1 Mutation.

作者信息

Bhalla Anil K, Bhargava Vinant, Meena Priti, Bhoiyar Ashish, Yadav Ajay, Rana Devinder S

机构信息

Department of Nephrology, Institute of Renal Science, Sir Gangaram Hospital, New Delhi, India.

出版信息

Indian J Nephrol. 2020 Sep-Oct;30(5):326-328. doi: 10.4103/ijn.IJN_65_20. Epub 2020 Aug 27.

Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1af5/7869650/d5b066c75a35/IJN-30-326-g001.jpg

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