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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.

DOI:10.1007/s12288-014-0364-6
PMID:25332602
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4192155/
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。

相似文献

1
Unilateral Renal Vein Thrombosis and Adrenal Hemorrhage in A Newborn with Homozygous Factor V Leiden and Heterozygous Of MTHFR-677T, MTHFR-1298C Gene Mutations.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
Indian J Hematol Blood Transfus. 2014 Sep;30(Suppl 1):294-8. doi: 10.1007/s12288-014-0364-6. Epub 2014 Mar 15.
2
[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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Internal jugular vein thrombosis due to heterozygote methylene tetrahydrofolate reductase (MTHFR) 1298C and Factor V G1691A mutations after a minor trauma.轻微创伤后因杂合子亚甲基四氢叶酸还原酶（MTHFR）1298C和凝血因子V G1691A突变导致的颈内静脉血栓形成
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本文引用的文献

1
[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]
Arch Pediatr. 2012 Apr;19(4):419-21. doi: 10.1016/j.arcped.2012.01.008. Epub 2012 Feb 21.
2
Neonatal renal vein thrombosis and prothrombotic risk.新生儿肾静脉血栓形成与血栓前风险。
Acta Paediatr. 2010 Jul;99(7):1104-7. doi: 10.1111/j.1651-2227.2010.01717.x. Epub 2010 Feb 11.
3
Renal venous thrombosis in a newborn with prothrombotic risk factors.一名具有血栓形成风险因素的新生儿发生肾静脉血栓形成。
Blood Coagul Fibrinolysis. 2009 Sep;20(6):458-60. doi: 10.1097/MBC.0b013e32832ca3d8.
4
Neonatal renal vein thrombosis: review of the English-language literature between 1992 and 2006.新生儿肾静脉血栓形成：1992年至2006年英文文献综述
Pediatrics. 2007 Nov;120(5):e1278-84. doi: 10.1542/peds.2007-0510.
5
Renal outcome of neonatal renal venous thrombosis: review of 28 patients and effectiveness of fibrinolytics and heparin in 10 patients.新生儿肾静脉血栓形成的肾脏转归：28例患者回顾及10例患者使用纤溶剂和肝素的疗效
Pediatrics. 2006 Nov;118(5):e1478-84. doi: 10.1542/peds.2005-1461. Epub 2006 Sep 25.
6
Perinatal renal venous thrombosis: presenting renal length predicts outcome.围产期肾静脉血栓形成：患侧肾脏长度可预测预后。
Arch Dis Child Fetal Neonatal Ed. 2006 Jul;91(4):F273-8. doi: 10.1136/adc.2005.083717. Epub 2006 Feb 7.
7
Neonatal renal venous thrombosis: clinical outcomes and prevalence of prothrombotic disorders.新生儿肾静脉血栓形成：临床结局与血栓前状态疾病的患病率
J Pediatr. 2005 Jun;146(6):811-6. doi: 10.1016/j.jpeds.2005.02.022.
8
Renal venous thrombosis in neonates: prothrombotic risk factors and long-term follow-up.新生儿肾静脉血栓形成：血栓形成的危险因素及长期随访
Blood. 2004 Sep 1;104(5):1356-60. doi: 10.1182/blood-2004-01-0229. Epub 2004 May 18.
9
Renal vein thrombosis in a newborn with prothrombotic genetic risk factors.一名具有血栓形成遗传风险因素的新生儿发生肾静脉血栓形成。
J Perinat Med. 2001;29(2):163-6. doi: 10.1515/JPM.2001.023.
10
Abdominal venous thrombosis in neonates and infants: role of prothrombotic risk factors - a multicentre case-control study. For the Childhood Thrombophilia Study Group.新生儿和婴儿腹部静脉血栓形成：血栓形成风险因素的作用——一项多中心病例对照研究。儿童血栓形成倾向研究组
Br J Haematol. 2000 Nov;111(2):534-9. doi: 10.1046/j.1365-2141.2000.02349.x.