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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.

DOI:10.4103/ijn.IJN_65_20
PMID:33707820
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7869650/
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/1af5/7869650/07375f110ae8/IJN-30-326-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1af5/7869650/d5b066c75a35/IJN-30-326-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1af5/7869650/0aba5a8e7009/IJN-30-326-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1af5/7869650/07375f110ae8/IJN-30-326-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1af5/7869650/d5b066c75a35/IJN-30-326-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1af5/7869650/0aba5a8e7009/IJN-30-326-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1af5/7869650/07375f110ae8/IJN-30-326-g003.jpg

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本文引用的文献

1
Diagnosis and endovascular treatment of acute thromboembolic renal artery occlusion presenting with abdominal pain.诊断和血管内治疗腹痛为表现的急性血栓栓塞性肾动脉闭塞。
J Thromb Thrombolysis. 2012 Oct;34(3):419-24. doi: 10.1007/s11239-012-0729-3.
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Renal infarction in the ED: 10-year experience and review of the literature.急诊科肾梗死：10 年经验及文献回顾。
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The treatment of hyperhomocysteinemia.高同型半胱氨酸血症的治疗。
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Acute renal infarction: a 10-year experience.急性肾梗死：十年经验
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Clinical characteristics of patients with segmental renal infarction.节段性肾梗死患者的临床特征。
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Hyperhomocysteinemia, low folate status, homozygous C677T mutation of the methylene tetrahydrofolate reductase and renal arterial thrombosis.
Clin Nephrol. 2002 Feb;57(2):158-62. doi: 10.5414/cnp57158.
8
C677T substitution in the methylenetetrahydrofolate reductase gene as a risk factor for venous thrombosis and arterial disease in selected patients.亚甲基四氢叶酸还原酶基因中的C677T替换作为特定患者静脉血栓形成和动脉疾病的危险因素。
Haematologica. 1999 Sep;84(9):824-8.
9
Low folate levels and thermolabile methylenetetrahydrofolate reductase as primary determinant of mild hyperhomocystinemia in normal and thromboembolic subjects.低叶酸水平和热不稳定亚甲基四氢叶酸还原酶是正常人和血栓栓塞患者轻度高同型半胱氨酸血症的主要决定因素。
Arterioscler Thromb Vasc Biol. 1999 Jul;19(7):1761-7. doi: 10.1161/01.atv.19.7.1761.