A Newborn Case With Renal Vein Thrombosis Due to Double Mutations of Factor V Leiden and MTHFR

Öz

Newborns are more susceptible to thrombosis than adults due to their lower amount of anticoagulant and fibrinolytic system proteins.  Incidence of thrombosis rises with presence of the predisposing factors such as hypoxia , infection, dehydration, polycytemia, infants of diabetic mothers, intravenous catheter use, and prothrombotic genetic disorders. Renal vein thrombosis can lead to potentially serious health problems and clinically present with hematuria, renal failure, thrombocytopenia, hypertension, oliguria and palpable mass in the abdomen.  Although renal vein thrombosis is a rare disease of newborn its incidence has been increased in recent years. In this article we presented a newborn case with meconium aspiration syndrome and renal vein thrombosis with presence of the genetic predisposing factors as Factor V Leiden and MTHFR gene mutations.

 

Anahtar Kelimeler

• New Born, Renal Vein Thrombosis, Gene Mutation

Faktör V Leiden ve Mthfr İkili Mutasyonu Bulunan Renal Ven Trombozlu Yenidoğan Olgusu

Öz

Yenidoğan bebeklerde eriskinlere göre antikoagulan ve fibrinolitik sistem protein düzeylerinin daha düşük olması nedeniyle tromboza yatkınlık mevcuttur. Hipoksi, enfeksiyon,  dehidratasyon, polisitemi, diyabetik anne bebeği, damar içi kateter kullanımı ve protrombotik genetik bozukluklar gibi hazırlayıcı faktörlerin varlığında tromboz sıklığı artmaktadır. Renal ven trombozu ciddi sağlık problemlerine yol açabilir ve klinik olarak hematüri, böbrek yetmezliği, trombositopeni, hipertansiyon, oligüri ve palpasyon ile batında ele gelen kitle seklinde ortaya çıkar. Renal ven trombozu yenidoğan döneminde oldukça nadir olarak görülmesine rağmen son yıllarda sıklığı giderek artmaktadır. Bu makalede Faktor V Leiden ve Metilentetrahidrofolat reduktaz (MTHFR) mutasyonlarının genetik predispozisyonunda   mekonyum aspirasyon sendromu ve renal ven trombozu gelişen bir yenidoğan olgusu sunulmuştur.

 

Anahtar Kelimeler

• Yenidoğan, Renal Ven Trombozu, Gen Mutasyonu

Kaynakça

1. Nowak-Gottl U, von Kries R, Gobel U. Neonatal symptomatic thromboembolism in Germany: Two year survey. Arch Dis Child Fetal Neonatal Ed 1997;76:163-7.
2. Schmidt B, Andrew M. Neonatal thrombosis: Report of a prospective Canadian and international registry. Pediatrics 1995;96(5 Pt 1):939-43.
3. Lau KK, Stoffman JM, Williams S, McCusker P, Brandao L, Patel S, et al. Canadian Pediatric Thrombosis and Hemostasis Network. Neonatal renal vein thrombosis: review of the English-language literatue between 1992 and 2006. Pediatrics 2007;120:1278-84.
4. Manco-Johnson M, Nuss R. Neonatal thrombotic disorders. Neoreviews 2000;10:201-4.
5. Tanindi S, Kurekci AE, Koseoglu V, Kurt M, Ozcan O. The normalization period of platelet aggregation in newborns. Thromb Res 1995;80:57-62.
6. Andrew M, Paes B, Milner R, Johnston M, Mitchell L, Tollefsen DM, et al. Development of the human coagulation system in the full-term infant. Blood 1987;70(1):165-72.
7. Lynch JK. Epidemiology and classification of perinatal stroke. Semin Fetal Neonatal Med 2009;14:245-9.
8. Muwakkit SA, Saab R, Sanjad SA, Bhar SI, Ishak RS, Samad ZA, et al. Renal venous thrombosis in a newborn with prothrombotic risk factors. Blood Coagul Fibrinolysis. 2009;20(6):458-60.

9. Wannes S, Soua H, Ghanmi S, Braham H, Hassine M, Hamza RA, et al. Neonatal renal vein thrombosis in a heterozygous carrier of both factor V Leiden and the MTHFR gene mutation. Arch Pediatr 2012;19(4):419-21.
10. Kosch A, Kuwertz-Broking E, Heler C, Kurnik K, Schobess R, Nowak-Gottl U. Renal venous thrombosis in neonates: Prothrombotic risk factors and long-term follow-up. Blood 2004;104:1356-60.
11. Zigman A, Yazbeck S, Emil S, Nguyen L. Renal vein thrombosis: a 10-year review. J Pediatr Surg 2000;35:1540-2.
12. Brandao LR, Simpson AE, Lau KK. Neonatal renal vein thrombosis. Semin Fetal Neonatal Med 2011;16:323-8.
13. Monagle P, Chan AK, Goldenberq NA, Ichord RN, Journeycake JM, Nowak-Göttl U, et al. Antithrombotic therapy in neonates and children: Antithrombotic Therapy and Prevention of Thrombosis, 9th ed: American College of Chest Physicians Evidence-Based Clinical Practive Guidelines. Chest 2012;141(2 Suppl):737-801.
14. Messinger Y, Sheaffer JW, Mrozek J, Smith CM, Sinaiko AR. Renal outcome of neonatal renal venous thrombosis: review of 28 patients and effectiveness of fibrinolytics and heparin in 10 patients. Pediatrics 2006;118:1478-84.
15. Monagle P, Chan A, Massicotte P, Chalmers E, Michelson AD. Antithrombotic therapy in children: the Seventh ACCP Conference on Antithrombotic and Thrombolytic Therapy. Chest 2004; 126(Suppl): 645-87.