Cirstoveanu Catalin, Calin Nicoleta, Heriseanu Carmen, Filip Cristina, Vasile Corina Maria, Margarint Irina, Marcu Veronica, Dimitriu Mihai, Ples Liliana, Tarnoveanu Sorin, Bizubac Mihaela
Department of Neonatal Intensive Care, "Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Neonatal Intensive Care Unit, "M.S. Curie" Children's Hospital, Constantin Brâncoveanu Boulevard, No. 20, 4th District, 041451 Bucharest, Romania.
J Clin Med. 2023 Jul 24;12(14):4856. doi: 10.3390/jcm12144856.
MTHFR polymorphism has been inconsistently linked to thrombotic events-some studies have shown its contribution to venous thrombosis, arterial thrombosis, and ischemic stroke, whereas others have found no statistically significant correlation between them.
A descriptive case series study was performed in the Neonatal Intensive Care Unit of "Marie Sklodowska Curie" Emergency Clinical Hospital for Children in Bucharest, Romania.
All patients had positive results for MTHFR variants; 14 patients were positive for compound heterozygosity, 13 patients for MTHFR C677T (seven of which were homozygous), and 13 patients for MTHFR A1298C (three of which were homozygous). Eighteen patients received anticoagulants (heparin, enoxaparin, or bivalirudin), and thrombolytics (alteplase) were administered in six cases. In one case, a thrombectomy was performed; in another, vascular plasty was undertaken. Only in six cases was complete revascularization possible. Incomplete revascularization occurred for one patient with a negative outcome.
The particularity of this case series is that every patient in our unit who developed thrombi had a positive genetic result for MTHFR mutations. MTHFR mutations should be regarded as a thrombotic risk factor for critically ill patients, and screening for MTHFR mutations should be performed in every admitted patient to intensive care units, thus achieving the prevention of thrombi.
亚甲基四氢叶酸还原酶（MTHFR）基因多态性与血栓形成事件的关联并不一致——一些研究表明其与静脉血栓形成、动脉血栓形成和缺血性中风有关，而另一些研究则未发现它们之间存在统计学上的显著相关性。
在罗马尼亚布加勒斯特“玛丽·居里”儿童急诊临床医院的新生儿重症监护病房进行了一项描述性病例系列研究。
所有患者的MTHFR基因变异检测结果均为阳性；14例患者为复合杂合子阳性，13例患者为MTHFR C677T阳性（其中7例为纯合子），13例患者为MTHFR A1298C阳性（其中3例为纯合子）。18例患者接受了抗凝治疗（肝素、依诺肝素或比伐卢定），6例患者接受了溶栓治疗（阿替普酶）。1例患者进行了血栓切除术；另1例患者进行了血管成形术。只有6例患者实现了完全再血管化。1例患者再血管化不完全，预后不良。
本病例系列的特殊之处在于，我们科室每例发生血栓的患者MTHFR基因突变的基因检测结果均为阳性。MTHFR基因突变应被视为重症患者的血栓形成危险因素，应对每例入住重症监护病房的患者进行MTHFR基因突变筛查，从而预防血栓形成。
