Intrauterine Limb Ischemia in Patient Heterozygous for the 677C>T) RS1801133 (Polymorphism of Methylenetetrahydrofolate Reductase MTHR Gene.

IF 0.7 Q4 PEDIATRICS
Case Reports in Pediatrics Pub Date : 2022-10-21 eCollection Date: 2022-01-01 DOI:10.1155/2022/2701548
Ahmad Al Hammouri, Rami A Misk, Hamza Abumunshar, Fawzy M Abunejma, Tasnim S Idrees, Mahmoud Abu Arqoub, Deiaa Malhis, Abdullah Shroof, Tareq Z Alzughayyar
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引用次数: 1

Abstract

Background: Intrauterine arterial thrombosis is extremely rare. Multiple inherited coagulopathies were found to be associated with thrombophilia and an increased risk of intrauterine arterial thrombosis. Methylenetetrahydrofolate reductase MTHFR (C667T) polymorphism was found to be associated with mild hyper-homocysteinemia, which, in turn, can promote thrombotic complications.

Materials and methods: We reported a case of intrauterine upper limb ischemia in a neonate who was found to be heterozygous for the 677C > T polymorphism of the MTHFR gene despite the dispute regarding its clinical significance as a risk of arterial thrombosis. We also reviewed the literature and summarized the clinical features, treatment, and prognosis of similar cases. Case Presentation. We reported a full-term female, born by normal spontaneous vaginal delivery who was found to have a swollen, blue left upper limb in the delivery room. Left upper limb computed tomography angiography (CTA) revealed left subclavian artery thrombosis. Investigations for the risk revealed heterozygosity for the MTHFR (C667T) polymorphism. Left upper limb amputation was done after the failure of medical management.

Conclusion: Despite the conflict about whether heterozygosity for MTHFR (C667T) polymorphism increases the risk of arterial thrombosis or not, there are few cases in the literature presented with intrauterine upper limb ischemia and were found to be heterozygous for the mutation. We recommend investigating neonates and their parents for complete thrombophilia mutations when they present with unusual vascular occlusion sites as newborns.

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亚甲基四氢叶酸还原酶MTHR基因杂合子677C>T RS1801133
背景:子宫内动脉血栓形成极为罕见。发现多种遗传性凝血功能障碍与血栓形成和宫内动脉血栓形成的风险增加有关。亚甲基四氢叶酸还原酶MTHFR (C667T)多态性被发现与轻度高同型半胱氨酸血症有关,而高同型半胱氨酸血症反过来又可促进血栓并发症。材料和方法:我们报道了一例宫内上肢缺血的新生儿,发现MTHFR基因677C > T多态性杂合,尽管其临床意义是否有动脉血栓形成的风险存在争议。我们也回顾了文献,总结了类似病例的临床特点、治疗和预后。案例演示。我们报告了一位足月女性,正常自然阴道分娩,在产房发现左上肢肿胀,蓝色。左上肢计算机断层血管造影显示左锁骨下动脉血栓形成。风险调查显示MTHFR (C667T)多态性为杂合性。治疗失败后行左上肢截肢。结论:尽管关于MTHFR (C667T)多态性的杂合性是否会增加动脉血栓形成的风险存在争议,但文献中很少有出现宫内上肢缺血的病例,并发现该突变为杂合性。我们建议在新生儿出现异常血管闭塞部位时,对新生儿及其父母进行完全血栓性突变的调查。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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自引率
11.10%
发文量
48
审稿时长
13 weeks
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