Preview

Neurology, Neuropsychiatry, Psychosomatics

Advanced search

Prevention of Fetal Congenital Malformations with Allowance for the Pharmacogenetic Features of the Metabolism of Antiepileptic Drugs and Hereditary Abnormalities in the Folate Cycle

https://doi.org/10.14412/2074-2711-2014-1S-31-38

Full Text:

Abstract

Fetal congenital malformations are among the most dangerous complications of pregnancy in women with epilepsy taking antiepileptic drugs. Valproic acid and phenobarbital have the greatest risk of teratogenic effects. Insights into the current mechanisms of teratogenic effect of antiepileptic drugs, pharmacogenetic features of the metabolism of valproates and hereditary abnormalities in the folate cycle enables prevention of fetal congenital malformations. 

About the Author

D. V. Dmitrenko
V.F. Voyno-Yasenetskiy Krasnoyarsk State Medical University, Ministry of Healthcare of the Russian Federation, Institute of Postgraduate Education; Neurological Center of Epileptology, Neurogenetics, and Brain Research, University Hospital, Krasnoyarsk
Russian Federation
Division of Medical Genetics and Clinical Neurophysiology,


References

1. Сухих ГТ, Адамян ЛВ, редакторы. Новые технологии в диагностике и лечении гине- кологических заболеваний. Москва: МЕДИ-Экспо; 2010. 304 с. [Sukhikh GT, Adamyan LV, editors. Novye tekhnologii v diag- nostike i lechenii ginekologicheskikh zabole- vaniy. Moscow: MEDI-Ekspo; 2010. 304 p.]

2. Pennell PB. Pregnancy in women who have epilepsy. Neurol Clin. 2004;22(4):799–820. DOI: http://dx.doi.org/10.1016/j.ncl.2004.07.004.

3. Viinikainen K, Heinonen S, Eriksson K, Kalviainen R. Community-based, prospective, controlled study of obstetric and neonatal out- come of 179 pregnancies in women with epilep- sy. Epilepsia. 2006;47(1):185–92. DOI: http://dx.doi.org/10.1111/j.1528- 1167.2006.00386.x.

4. Katz O, Levy A, Wiznitzer A, Sheiner E. Pregnancy and perinatal outcome in epileptic women: a population based study. J Matern Fetal Neonatal Med. 2006;19(1):21–5. DOI: http://dx.doi.org/10.1080/14767050500434096. 5. Tomson T, Hiilesmaa V. Epilepsy in pregnancy. BMJ. 2007;335(7623):769–73. DOI: http://dx.doi.org/10.1136/bmj.39266.473113.BE. 6. Карлов ВА, Власов ПН, Петрухин ВА, Краснопольский ВИ. Терапевтическая так- тика при эпилепсии во время беременно- сти. Методические указания МЗ РФ. Моск- ва; 2001; 15 с. [Karlov VA, Vlasov PN, Petrukhin VA, Krasnopol'skii VI. Terapevticheskaya taktika pri epilepsii vo vre- mya beremennosti. Metodicheskie ukazaniya MZ RF. Moscow; 2001; 15 p.]

5. Карлов ВА. Стратегия и тактика терапии эпилепсии сегодня. Журнал неврологии и психиатрии им. C.C. Корсакова. 2004;104(8):28. [Karlov VA. Strategiya i taktika terapii epilepsii segodnya. Zhurnal nevrologii i psikhiatrii im. C.C. Korsakova. 2004;104(8):28.]

6. Течане ХТ, Доброхотова ЮЭ, Хейдар ЛХ и др. Взаимное влияние беременности и симптоматической посттравматической эпилепсии. Проблемы репродукции. 2008;(3):77–82. [Techane HT, Dobrokhotova YuE, Kheidar LKh, et al. Interferention between pregnancy and symptomatic posttrau- matic epilepsy. Problemy reproduktsii. 2008;(3):77–82.]

7. Власов ПН. Беременность при эпилеп- сии, проблемы и перспективы. Эпилепcия и пароксизмальные состояния. 2011;3(4):45–6. [Vlasov PN. Beremennost' pri epilepsii, problemy i perspektivy. Epilepciya i paroksizmal'nye sostoyaniya. 2011;3(4):45–6.] 10. Островская АВ, Шер СА. Проблемы ле- карственной безопасности плода. Педиатрическая фармакология. 2010;7(1):25–8. [Ostrovskaya AV, Sher SA. Issues of fetus drug safety. Pediatricheskaya farmakologiya. 2010;7(1):25–8.]

8. Tomson T, Battino D, Bonnizoni E, et al. Dose-dependent risk of malformations with antiepileptic drugs: an analysis of data from the EURAP epilepsy and pregnancy registry. Lancet Neurol. 2011;10(7):609–17. DOI: http://dx.doi.org/10.1016/S1474-4422(11)70107-7. 12. Tomson T, Battino D. Teratogenicity of antiepileptic drugs: State of the art. Curr Opin Neurol. 2005;18(2):135–40. DOI: http://dx.doi.org/10.1097/01.wco.0000162854.6 7767.06.

9. Власов ПН. Беременность при эпилепсии. Эпилепсия и пароксизмальные состояния. 2009;1(1):8–13. [Vlasov PN. Pregnancy in epilepsy. Epilepsiya i paroksizmal'nye sostoy- aniya. 2009;1(1):8–13.]

10. Кучко АМ. Безопасность лекарственных средств. Вестник фармации. 2011;3(53):100–2. [Kuchko AM. Bezopasnost' lekarstvennykh sredstv. Vestnik farmatsii. 2011;3(53):100–2.]

11. Киселева ЛГ, Калинина Л, Чумакова ГН. Влияние противосудорожной терапии мате- ри на состояние плода и новорожденного. Врач-аспирант. 2011;45(2.2):363–72. [Kiseleva LG, Kalinina LP, Chumakova GN. Effect of pregnant woman anticonvulsant drugs on fetus condition and newborn adaptation. Vrach-aspirant. 2011;45(2.2):363–72.]

12. Herndandez-Diaz S, Smith CR, Shen A, et al. Comparative Safety of Antiepileptic Drugs During Pregnancy. Neurology. 2012;78(21):1692–9. DOI: http://dx.doi.org/10.1212/WNL.0b013e318257 4f39.

13. Finnell RH, Buechler BA, Kerr BM, et al. Clinical and experimental studies linking oxida- tive metabolism to phenytoin-induced teratoge- nesis. Neurology. 1992;42(5):25–31. DOI: http://dx.doi.org/10.1136/adc.75.6.517.

14. Ornoy A, Cohen E. Outcome of children born to epileptic mothers treated with carba- mazepine during pregnancy. Arch Dis Child. 1996;75(6):517–20. DOI: http://dx.doi.org/10.1136/adc.75.6.517.

15. Dansky LV, Rosenblatt DS, Andermann E. Mechanisms of teratogenesis: folic acid and antiepileptic therapy. Neurology. 1992;42(4 Suppl 5):32–42.

16. Lewis DP, van Dyke DC, Stumbo PJ, Berg MJ. Drug and environmental factors asso- ciated with adverse pregnancy outcomes. Part I: Antiepileptic drugs, contraceptives, smoking, and folate. Ann Pharmacother. 1998;32(7–8):802–17. DOI: http://dx.doi.org/10.1345/aph.17297.

17. Chen L, Liu F, Yoshida S, Kaneko S. Is breast-feeding of infants advisable for epileptic mothers taking antiepileptic drugs? Psychiatry Clin Neurosci. 2010;64(5):460–8. DOI: 10.1111/j.1440-1819.2010.02126.x.

18. Strickler SM, Dansky LV, Miller MA, et al. Genetic predisposition to phenytoin- induced birth defects. Lancet. 1985;326(8458):746–9. DOI: http://dx.doi.org/10.1016/S0140- 6736(85)90629-4.

19. Meier UT, Meyer UA. Genetic polymor- phism of human cytochrome P-450 (S)- mephenytoin 4-hydrolase. Studies with human autoantibodies suggest a functionally altered cytochrome P450 isozyme as a cause of the genetic deficiency. Biochemistry. 1987;26(25):8466–74. DOI: http://dx.doi.org/10.1021/bi00399a065.

20. Шнайдер НA, Сычев ДА, Пилюгина МС и др. Значение фармакогенетики вальпрое- вой кислоты в индивидуальном подходе к лечению страдающих эпилепсией женщин фертильного возраста. Журнал неврологии и психиатрии им. С.С. Корсакова. 2011;(S5):31–7. [Shnaider NA, Sychev DA, Pilyugina MS, et al. Znachenie farmakogenetiki val'proevoi kisloty v individual'nom podkhode k lecheniyu stradayushchikh epilepsiei zhen- shchin fertil'nogo vozrasta. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova. 2011;(S5):31–7.]

21. Сычев ДА, Раменская ГВ, Игнатьев ИВ, Кукес ВГ. Клиническая фармакогенетика. Москва: ГЭОТАР-Медиа; 2007. 230 с. [Sychev DA, Ramenskaya GV, Ignat'ev IV, Kukes VG. Klinicheskaya farmakogenetika. Moscow: GEOTAR-Media; 2007. 230 p.]

22. Pilotto A, Seripa D, Franceshi M, et al. Geneticsusceptibility to nonsteroidal anti- inflammatory drug-related gastroduodenal bleeding: role of cytochrome P4502C9 poly- morphism. Gastroenterology. 2007;133(2):465–71. DOI: http://dx.doi.org/10.1053/j.gastro.2007.05.025.

23. Kiang TK, Ho PC, Anari MR, et al. Contribution of CYP2C9, CYP2A6, and CYP2B6 to valproic acid metabolism in hepatic microsomes from individuals with the CYP2C9*1/CYP2C9*1 genotype. Toxicol Sci. 2006;94(2):261–71. DOI: http://dx.doi.org/10.1093/toxsci/kfl096.

24. Пилюгина МС. Пути метаболизма препа- ратов вальпроевой кислоты и карбамазепи- на. Вестник Клинической больницы No 51. 2010;3(10):52–5. [Пилюгина МС. Пути ме- таболизма препаратов вальпроевой кислоты и карбамазепина. Вестник Клинической больницы No 51. 2010;3(10):52–5.]

25. Шнайдер НА, Пилюгина МС, Дмитренко ДВ и др. Индивидуальный подход к вы- бору антиэпилептической терапии и клинический фармакомониторинг антиконвуль- сантов – путь к рациональному использова- нию лекарственных средств. Клиническая фармакология и терапия. 2010;(6):178–80. [Shnaider NA, Pilyugina MS, Dmitrenko DV, et al. Individual'nyi podkhod k vyboru antiepilepticheskoi terapii i klinicheskii far- makomonitoring antikonvul'santov – put' k rat- sional'nomu ispol'zovaniyu lekarstvennykh sred- stv. Klinicheskaya farmakologiya i terapiya. 2010;(6):178–80.]

26. Шнайдер НА, Пилюгина МС, Дмитрен- ко ДВ. Стратификация больных эпилепсией по группам риска развития нежелательных лекарственных явлений на фоне приема препаратов вальпроевой кислоты. Замести- тель главного врача. 2011;7(62):50–63. [Shnaider NA, Pilyugina MS, Dmitrenko DV. Stratifikatsiya bol'nykh epilepsiei po gruppam riska razvitiya nezhelatel'nykh lekarstvennykh yavlenii na fone priema preparatov val'proevoi kisloty. Zamestitel' glavnogo vracha. 2011;7(62):50–63.]

27. Добролюбов АС, Липин МА, Поляков АВ, Фетисова ИН. Полиморфизм генов фолатного обмена и болезни челове- ка. Вестник новых медицинских техноло- гий. 2006;ХIII(4):71–3. [Dobrolyubov AS, Lipin MA, Polyakov AV, Fetisova IN.

28. The Polymorphism of Folate Metabolism Genes and Human Diseases. Vestnik novykh meditsin- skikh tekhnologii. 2006;ХIII(4):71–3.]

29. Fryer AA, Nafee TM, Ismail KM, et al. LINE-1 DNA methylation is inversely correlat- ed with cord plasma homocysteine in man: a preliminary study. Epigenetics. 2009;4(6):394–8. DOI: http://dx.doi.org/10.4161/epi.4.6.9766/

30. Fryer AA, Emes RD, Ismail KM, et al. Quantitative, high-resolution epigenetic profil- ing of CpG loci identifies associations with cord blood plasma homocysteine and birth weight in humans. Epigenetics. 2011;6(1):86–94. DOI: http://dx.doi.org/10.4161/epi.6.1.13392.

31. Verrotti A, Pascarella R, Trotta D, et al. Hyperhomocysteinemia in children treated with sodium valproate and carbamazepine. Epilepsy Res. 2000;41(3):253–7. DOI: http://dx.doi.org/10.1016/S0920- 1211(00)00150-9.

32. Iqbal MM, Gundlapalli SP, Ryan WG, et al. Effects of antimanic mood-stabilizing drugs on fetuses, neonates, and nursing infants. South Med J. 2001;94(3):304–22.

33. Szyf M. Epigenetics, DNA methylation, and chromatin modifying drugs. Annu Rev Pharmacol Toxicol. 2009;49:243–63. DOI: 10.1146/annurev-pharmtox-061008-103102. DOI: http://dx.doi.org/10.1146/annurev- pharmtox-061008-103102.

34. Suzuki MM, Bird A. DNA methylation landscapes: provocative insights from epige- nomics. Nat Rev Genet. 2008;9(6):465–76. DOI: 10.1038/nrg2341.

35. Nafee TM, Farrell WE, Carroll WD, et al. Epigenetic control of fetal gene expression. BJOG. 2008;115(2):158–68. DOI: http://dx.doi.org/10.1111/j.1471- 0528.2007.01528.x.

36. Hernandez-Diaz S, Werler MM, Walker AM, Mitchell AA. Folic acid antagonists during pregnancy and the risk of birth defects. N Engl J Med. 2000;343(22):1608–14. DOI: http://dx.doi.org/10.1056/NEJM200011303432204.

37. Kjaer D, Horvath-Puho E, Christensen J, et al. Antiepileptic drug use, folic acid supplemen- tation, and congenital abnormalities: a popula- tion-based case-control study. BJOG. 2008;115(1):98–103. DOI: http://dx.doi.org/10.1111/j.1471- 0528.2007.01552.x.

38. Rothenberg SP, Da Costa MP, Sequeira JM, et al. Autoantibodies against folate receptors in women with a pregnancy complicated by a neu- ral-tube defect. N Engl J Med. 2004;350(2):134–42. DOI: http://dx.doi.org/10.1056/NEJMoa031145.

39. Hernandez-Diaz S, Werler MM, Walker AM, Mitchell AA. Neural tube defects in relation to use of folic acid antagonists during pregnancy. Am J Epidemiol. 2001;153(10):961–8. DOI: http://dx.doi.org/10.1093/aje/153.10.961.

40. Wilson RD, Davies G, Desilets V, et al. The use of folic acid for the prevention of neural tube defects and other congenital anomalies. J Obstet Gynaecol Can. 2003;25(11):959–73.

41. Nakken KO, Lillestolen KM, Tauboll E,

42. et al. Epilepsy and pregnancy—drug use, seizure control, and complications. Tidsskr Nor Laegeforen. 2006;126(19):2507–10.

43. Stokes T, Shaw EJ, Juarez-Garcia A, et al. Guidelines and Evidence Review for the Epilepsies: diagnosis and management in adults and children in primary and secondary care. London: UK: Royal College of General Practitioners; 2004.

44. Бицадзе ВО, Макацария АД. Принципы профилактики развития дефектов нервной трубки плода. Фарматека. 2007;(1):26–8. [Bitsadze VO, Makatsariya AD. Printsipy profi- laktiki razvitiya defektov nervnoi trubki ploda. Farmateka. 2007;(1):26–8.]

45. Гродницкая ЕЭ. Фолацин в профилакти- ке дефектов нервной трубки. Журнал аку- шерства и женских болезней. 2010;LIX(3):87–91. [Grodnitskaya EE. Folatsin v profilaktike defektov nervnoi trubki. Zhurnal akusherstva i zhenskikh boleznei. 2010;LIX(3):87–91.]

46. Барашнев ЮИ. Эмбриофетопатии: пато- генез, клиника, диагностика, профилактика. Росcийский вестник перинатологии и педиатрии. 2010;55(4):6–12. [Barashnev YuI. Embryofetopathies: pathogenesis, clinical pic- ture, diagnosis, prevention. Rosciiskii vestnik perinatologii i pediatrii. 2010;55(4):6–12.]

47. Приказ Министерства здравоохранения РФ от 1 ноября 2012 г. No 572н «Об утвер- ждении Порядка оказания медицинской помощи по профилю «акушерство и гине- кология (за исключением использования вспомогательных репродуктивных техноло- гий)». [Prikaz Ministerstva zdravookhraneniya RF ot 1 noyabrya 2012 g. No 572n «Ob utverzh- denii Poryadka okazaniya meditsinskoi pomoshchi po profilyu «akusherstvo i ginekologiya (za isklyucheniem ispol'zovaniya vspomogatel'nykh reproduktivnykh tekhnologii)».]

48. Shi Q, Savage JE, Hufeisen SJ, et al. L-homocysteine sulfinic acid and other acidic homocysteine derivatives are potent and selec- tive metabotropic glutamate receptor agonists.

49. J Pharmacol Exp Ther. 2003;305(1):131–42. DOI: http://dx.doi.org/10.1124/jpet.102.047092.

50. Gueant-Rodriguez RM, Rendeli C, Namour B, et al. Transcobalamin and methion- ine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans. Neurosci Lett. 2003;334(3):189–92. DOI: http://dx.doi.org/10.1016/S0304- 3940(03)00468-3.

51. Kluijtmans LA, van den Heuvel LP, Boers GH. Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet. 1996;58(1):35–41.

52. Giovannucci E, Chen J, Smith-Warner SA, et al. Methylenetetrahydrofolate reductase, alcohol dehydrogenase, diet, and risk of col- orectal adenomas. Cancer Epidemiol Biomarkers Prev. 2003;12(10):970–9.

53. Шнайдер НА, Пилюгина МС, Дмитрен- ко ДВ и др. Структура и частота встречаемо- сти нежелательных лекарственных реакций на фоне приема противоэпилептических препаратов у женщин, больных эпилепсией. Проблемы женcкого здоровья. 2011;6(2):74–8. [Shnayder NA, Pilyugina MS, Dmitrenko DV, et al. Structure and incidence of adverse reactions due to the treatment with antiepileptic drugs in women with epilepsy. Problemy zhenckogo zdorov'ya. 2011;6(2):74–8.]

54. Шнайдер НА, Пилюгина МС, Дмитрен- ко ДВ и др. Индивидуальный подход к вы- бору антиэпилептической терапии и клинический фармакомониторинг антиконвуль- сантов – путь к рациональному использова- нию лекарственных средств. Клиническая фармакология и терапия. 2010;(6):178–80. [Shnaider NA, Pilyugina MS, Dmitrenko DV i dr. Individual'nyi podkhod k vyboru antiepilep- ticheskoi terapii i klinicheskii farmakomonitor- ing antikonvul'santov – put' k ratsional'nomu ispol'zovaniyu lekarstvennykh sredstv. Klinicheskaya farmakologiya i terapiya. 2010;(6):178–80.]


For citation:


Dmitrenko D.V. Prevention of Fetal Congenital Malformations with Allowance for the Pharmacogenetic Features of the Metabolism of Antiepileptic Drugs and Hereditary Abnormalities in the Folate Cycle. Neurology, Neuropsychiatry, Psychosomatics. 2014;6(1S):31-38. (In Russ.) https://doi.org/10.14412/2074-2711-2014-1S-31-38

Views: 1026


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 2074-2711 (Print)
ISSN 2310-1342 (Online)