4G/4G polymorfismus genu pro inhibitor aktivátoru plazminogenu 1 (PAI-1) jako nezávislý rizikový faktor placentární insuficience, způsobující u plodu hemodynamickou centralizaci

English version České info

Cíl:
Cílem je popsat případ, kdy 4G/4G polymorfismus genu pro inhibitor aktivátoru plazminogenu 1 (PAI-1) je nezávislým rizikovým faktorem pro vznik placentární insuficience.

Design:
Kazuistika.

Pracoviště:
Ústav veřejného zdravotnictví, State University of Ceará (UECE), Fortaleza-CE, Brazílie.

Kazuistika:
Dědičná hypofibrinolýza, způsobená 4G/4G homozygotním stavem genu kódujícího inhibitor aktivátoru plazminogenu 1, je nezávislým rizikovým faktorem pro vznik komplikací v průběhu těhotenství. Ke vzniku placentární insuficience dochází pravděpodobně indukcí trombózy. V našem případě se jednalo o těhotnou s nízce rizikovým těhotenstvím bez jakýchkoliv klinických projevů v průběhu gravidity. Na počátku 3. trimestru se u této těhotné zjistila růstová retardace plodu s centralizací oběhu a bylo vysloveno podezření na insuficienci placenty. Ihned po porodu se u pacientky objevila hluboká žilní trombóza dolní končetiny. Při anatomicko-patologickém rozboru placenty byly popsány infarkty různého stáří. Příčinou vzniku těchto komplikací u pacientky byl pravděpodobně zjištěný homozygotní stav genu 4G/4G kódující inhibitor aktivátoru plazminogenu 1 (PAI-1).

Klíčová slova:
inhibitor aktivátoru plazminogenu 1, insuficience placenty, fetální distres, žilní trombóza, dopplerometrická ultrasonografie, růstová retardace plodu

: Souza P. C. P. ¹; Alves J. A. G. ¹; S. M. Maia ^1,2; Edward Araujo Júnior ³ ; Santana E. F. M. ³; Da Silva Costa F. ⁴
: Department of Public Health, State University of Ceará (UECE), Fortaleza-CE, Brazil ¹; University of Fortaleza (UNIFOR), Fortaleza-CE, Brazil ²; Department of Obstetrics, Paulista School of Medicine – São Paulo Federal University (EPM-UNIFESP), São Paulo-SP, Brazil ³; Pregnancy Research Centre, Department of Perinatal Medicine and Department of Obstetrics and Gynecology, University of Melbourne, The Royal Women’s Hospital, Melbourne, Victoria, Australia ⁴
: Ceska Gynekol 2015; 80(1): 74-79

Cíl:
Cílem je popsat případ, kdy 4G/4G polymorfismus genu pro inhibitor aktivátoru plazminogenu 1 (PAI-1) je nezávislým rizikovým faktorem pro vznik placentární insuficience.

Design:
Kazuistika.

Pracoviště:
Ústav veřejného zdravotnictví, State University of Ceará (UECE), Fortaleza-CE, Brazílie.

Klíčová slova:
inhibitor aktivátoru plazminogenu 1, insuficience placenty, fetální distres, žilní trombóza, dopplerometrická ultrasonografie, růstová retardace plodu

Sources

1. Bauer, KA. The thrombophilias: Well-defined risk factors with uncertain therapeutic implications. Ann Inter Med, 2001, 135(5), p. 367–373.

2. Bellart, J., Gilabert, R., Fontcuberta, J., et al. Coagulation and fibrinolytic parameters in normal pregnancy and in pregnancy complicated by intrauterine growth retardation. Am J Perinatol, 1998, 15(2), p. 81–85.

3. Blomback, M., Bremme, K., Hellgren, M., et al. Throm-boprophylaxis with low molecular mass heparin, ‚Fragmin‘ (dalteparin), during pregnancy – a longitudinal safety study. Blood Coagul Fibrinolysis, 1998, 9(1), p. 1–9.

4. Dalen, JE. Should patients with venous thromboembolism be screened for thrombophilia? Am J Med, 2008, 121, p. 458–463.

5. D‘Elia, AV., Fabbro, D., Driul, L., et al. Plasminogen activator inhibitor-1 gene polymorphisms in pre-eclampsia. Semin Thromb Hemost, 2011, 37(2), p. 97–105.

6. De Vries, JIP., Dekker, GA., Huijgens, PC., et al. Hyper-homocysteinaemia and protein S deficiency in complicated pregnancies. Br J Obstet Gynaecol, 1997, 104(11), p. 1248–1254.

7. Estellés, A., Gilabert, J., Grancha, S., et al. Abnormal expression of type 1 plasminogen activator inhibitor and tissue factor in severe preeclampsia. Thromb Haemost, 1998, 79(3), p. 500–508.

8. Estellés, A., Grancha, S., Gilabert, J., et al. Abnormal expression of plasminogen activator inhibitors in patients with gestational trophoblastic disease. Am J Pathol, 1996, 149(4), p. 1229–1239.

9. Halligan, A., Bonnar, J., Sheppard, B., et al. Haemostatic, fibrinolytic and endothelial variables in normal pregnancies and pre-eclampsia. Br J Obstet Gynaecol, 1994, 101(6), p. 488–492.

10. Glueck, CJ., Freiberg,, R., Gruppo, R., et al. Thrombophilia and hypofibrinolysis: Reversible pathogenetic etiologies of osteo-necrosis in adults and in children (Legg Perthes Disease). AOA International Symposium on Osteonecrosis. In: Urbaniak JR, Jones JP Jr (eds): Osteonecrosis: Etiology, Diagnosis, and Treatment. Rosemont, IL, American Academy of Orthopedic Surgeons, 1997, p. 105–110.

11. Glueck, CJ., Kupferminc, MJ., Fontaine, RN., et al. Genetic hypofibrinolysis in complicated pregnancies. Obstet Gynecol, 2001, 97(1), p. 44–48.

12. Glueck, CJ., Phillips, H., Cameron, D., et al. The 4G/4G polymorphism of the hypofibrinolytic plasminogen activator inhibitor type 1 gene: An independent risk factor for serious pregnancy complications. Metabolism, 2000, 49(7), p. 845–852.

13. Glueck, CJ., Wang, P., Fontaine, RN., et al. Plasminoge activator inhibitor activity: An independent risk factor for the high miscarriage rate during pregnancy in women with polycystic ovary syndrome. Metabolism, 1999, 48(12), p. 1589–1595.

14. Greer, IA. Thrombophilia: implications for pregnancy outcome. Thrombosis Res, 2003, 109(2–3), p. 73–81.

15. Gris, JC., Neveu, S., Mares, P., et al. Plasma fibrinolytic activators and their inhibitors in women suffering from early recurrent abortion of unknown etiology. J Lab Clin Med, 1993, 122(5), p. 606–615.

16. Gris, JC., Ripart-Neveu, S., Maugard, C., et al. Respective evaluation of the prevalence of haemostasis abnormalities in unexplained primary early recurrent miscarriages. The Nimes Obstetricians and Haematologists (NOHA) Study. Thromb Haemost, 1997, 77(6), p. 1096–1103.

17. Kupferminc, MJ., Eldor, A., Steinman, N., et al. Increased frequency of genetic thrombophilia in women with complications of pregnancy. New Engl J Med, 1999, 340(1), p. 9–13.

18. Lang, IM., Moser, KM., Schleef, RR. Elevated expression of urokinase-like plasminogen activator and plasminogen activator inhibitor type 1 during the vascular remodeling associated with pulmonary thromboembolism. Arterioscler Thromb Vasc Biol, 1998, 18(5), p. 808–815.

19. Loskutoff, DJ., Sawdey, M., Keeton, M., Schneiderman, J. Regulation of PAI-1 gene expression in vivo. Thromb Haemost, 1993, 70(1), p. 135–137.

20. Margetic, S. Diagnostic algorithm for thrombophilia screening. Clin Chem Lab Med, 2010, 48(1), p. S27–S39.

21. Miyakis, S., Lockshin, MD., Atsumi, T., et al. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J Thromb Haemost, 2006, 4(2), p. 295–306.

22. Riyazi, N., Leeda, M., De Vries, JIP., et al. Low-molecular-weight heparin combined with aspirin in pregnant women with thrombophilia and a history of preeclampsia or fetal growth restriction: A preliminary study. Eur J Obstet Gynecol Reprod Biol, 1998, 80(1), p. 49–54.

23. Said, JM., Tsui, R., Borg, AJ., et al. The PAI-1 4G/5G polymorphism is not associated with an increased risk of adverse pregnancy outcome in asymptomatic nulliparous women. J Thromb Haemost, 2012, 10(5), p. 881–886.

24. Schjetlein, R., Haugen, G., Wisløff, F. Markers of intravascular coagulation and fibrinolysis in preeclampsia: Association with intrauterine growth retardation. Acta Obstet Gynecol Scand, 1997, 76(6), p. 541–546.

25. van Meijer, M., Pannekoek, H. Structure of plasminogen activator inhibitor 1 (PAI-1) and its function in fibrinolysis: an update. Fibrinolysis, 1995, 9(5), p. 263–276.

26. Wiwanitkit, V. Correlation between plasminogen activator inhibitor-1 4G/5G polymorphism and pre-eclampsia: an appraisal. Arch Gynecol Obstet, 2006, 273(6), p. 322–324.