一名患有纯合子因子V莱顿突变及杂合子MTHFR-677T、MTHFR-1298C基因突变的新生儿出现单侧肾静脉血栓形成和肾上腺出血
Unilateral Renal Vein Thrombosis and Adrenal Hemorrhage in A Newborn with Homozygous Factor V Leiden and Heterozygous Of MTHFR-677T, MTHFR-1298C Gene Mutations.
作者信息
Sandal Gonca, Arıkan Elvan, Kuybulu Ayça Esra, Ormecı Ahmet Rifat
机构信息
Department of Pediatrics, Suleyman Demirel University Medical School, Halife Sultan Mah. 3408 Sk. Şahin Bey Sitesi. D: 5, Isparta, Turkey.
出版信息
Indian J Hematol Blood Transfus. 2014 Sep;30(Suppl 1):294-8. doi: 10.1007/s12288-014-0364-6. Epub 2014 Mar 15.
Abstract
Renal vein thrombosis (RVT) occurs as an acute and life-threatening event in neonates. RVT is the most common non-catheter-related thrombosis in infancy and occurs primarily in the newborn period. Non-catheter-related abdominal thrombosis on neonates has a higher incidence of genetic prothrombotic risk factors. RVT and adrenal hemorrhage can both be encountered in the neonatal period and they may occur at the same time (Bokenkamp et al., Eur J Pediatr 159:44-8, 2000; Lau et al. Pediatrics 120:1278-84, 2007). We report a case of unilateral RVT and adrenal hemorrhage in a newborn with homozygous factor V Leiden mutation and heterozygous of the methylene tetrahydrofolate reductase (MTHFR) gene mutations.
摘要
肾静脉血栓形成（RVT）在新生儿中是一种急性且危及生命的事件。RVT是婴儿期最常见的非导管相关血栓形成，主要发生在新生儿期。新生儿非导管相关腹部血栓形成中遗传促血栓形成危险因素的发生率较高。RVT和肾上腺出血在新生儿期均可能出现，且可能同时发生（博肯坎普等人，《欧洲儿科学杂志》159:44 - 8，2000年；刘等人，《儿科学》120:1278 - 84，2007年）。我们报告一例患有纯合子因子V莱顿突变和亚甲基四氢叶酸还原酶（MTHFR）基因突变杂合子的新生儿单侧RVT和肾上腺出血病例。
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本文引用的文献
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[Neonatal renal vein thrombosis in a heterozygous carrier of both factor V Leiden and the MTHFR gene mutation].[一名同时携带因子V莱顿突变和亚甲基四氢叶酸还原酶基因突变的杂合子携带者发生新生儿肾静脉血栓形成]
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