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Повторный ишемический инсульт у молодого пациента, страдающего болезнью Фабри, с полисистемным поражением
Повторный ишемический инсульт у молодого пациента, страдающего болезнью Фабри, с полисистемным поражением
Кимельфельд Е.И., Гудкова В.В., Гуцалюк А.Г. и др. Повторный ишемический инсульт у молодого пациента, страдающего болезнью Фабри, с полисистемным поражением. Consilium Medicum. 2017; 19 (9): 12–17. DOI: 10.26442/2075-1753_19.9.12-17
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Аннотация
В статье представлено клиническое наблюдение – развитие повторных ишемических инсультов у молодого пациента, ведущей причиной формирования лакунарных инфарктов у которого явилось редкое наследственное заболевание – болезнь Фабри. Отражены сложности клинической диагностики. Отмечено значение системного анализа с обобщением результатов неврологического, общесоматического исследований, а также семейного и онтогенетического анамнеза. Приведены данные биохимического и молекулярно-генетического исследований сухой капли крови, показавшие ферментопатию (значительное снижение фермента α-галактозидазы) и уникальную семейную мутацию в 7-м экзоне гена GLA. Подчеркнуто, что пациенты, перенесшие инсульт в молодом возрасте (до 55 лет), подлежат селективному скринингу с обязательным исследованием сухой капли крови на наличие болезни Фабри.
Ключевые слова: инсульт в молодом возрасте, болезнь Фабри, семейный анамнез, биохимическое и молекулярно-генетическое исследование, группы селективного скрининга.
Key words: stroke at a young age, Fabry's disease, family history, biochemical and molecular genetic research, selective screening groups.
Ключевые слова: инсульт в молодом возрасте, болезнь Фабри, семейный анамнез, биохимическое и молекулярно-генетическое исследование, группы селективного скрининга.
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Key words: stroke at a young age, Fabry's disease, family history, biochemical and molecular genetic research, selective screening groups.
Полный текст
Список литературы
1. Евтушенко С.К., Филимонов Д.А., Симонян В.А. и др. Основные и новые факторы риска, способствующие развитию ишемических инсультов у лиц молодого возраста. Междунар. неврологический журн. 2013; 60 (6): 92–100. / Evtushenko S.K., Filimonov D.A., Simonyan V.A. i dr. Osnovnye i novye faktory riska, sposobstvuiushchie razvitiiu ishemicheskikh insul'tov u lits molodogo vozrasta. Mezhdunar. nevrologicheskii zhurn. 2013; 60 (6): 92–100. [in Russian]
2. Евтушенко С.К., Филимонов Д.А. Роль гомоцистеина в развитии ишемических инсультов у лиц молодого возраста (обзор литературы и личные наблюдения). Междунар. неврологический журн. 2013; 61 (7): 19–30. / Evtushenko S.K., Filimonov D.A. Rol' gomotsisteina v razvitii ishemicheskikh insul'tov u lits molodogo vozrasta (obzor literatury i lichnye nabliudeniia). Mezhdunar. nevrologicheskii zhurn. 2013; 61 (7): 19–30. [in Russian]
3. Кузенкова Л.М., Намазова-Баранова Л.С., Подклетнова Т.В и др. Болезнь Фабри: особенности заболевания у детей и подростков. Вопр. соврем. педиатрии. 2015; 14 (3): 341–8. DOI: 10.15690/vsp.v14i3.1369 / Kuzenkova L.M., Namazova-Baranova L.S., Podkletnova T.V i dr. Bolezn' Fabri: osobennosti zabolevaniia u detei i podrostkov. Vopr. sovrem. pediatrii. 2015; 14 (3): 341–8. DOI: 10.15690/vsp.v14i3.1369 [in Russian]
4. Mehta A, Ricci R, Widmer U et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004; 34 (3): 236–42.
5. Ramaswami U, Whybra C, Parini R et al. FOS European Investigators. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr 2006; 95: 86–92.
6. Schiffmann R. Fabry disease. Pharmacol Ther 2009; 122: 65–77.
7. Brady RO, Gal AE, Bradley RM et al. Enzymatic defect in Fabry’s disease. Ceramide-trihexosidase deficiency. N Engl J Med 1967; 276: 1163-7.
8. Kint JA. Fabry’s disease: a-galactosidase deficiency. Science 1970; 167: 1268–9.
9. Салогуб Г.Н. Клиническая гетерогенность болезни Фабри. Нервно-мышечные болезни. 2015; 5 (4): 39–45. DOI: 10.17 650 / 2222-8721-2015-5-4-39-46 / Salogub G.N. Klinicheskaia geterogennost' bolezni Fabri. Nervno-myshechnye bolezni. 2015; 5 (4): 39–45. DOI: 10.17 650 / 2222-8721-2015-5-4-39-46 [in Russian]
10. Голивец Л.Т., Круглова О.В., Гусарова Е.А. и др. Болезнь Фабри – наследственное метаболическое заболевание нервной системы. Нервные болезни. 2016; 1: 36–47. / Golivets L.T., Kruglova O.V., Gusarova E.A. i dr. Bolezn' Fabri – nasledstvennoe metabolicheskoe zabolevanie nervnoi sistemy. Nervnye bolezni. 2016; 1: 36–47. [in Russian]
11. Sommer C, Uceyler N, Duning T et al. Pain therapy for Fabry’s disease. Internist (Berl) 2013; 54 (1): 121–2.
12. Seydelmann N, Wanner C, Stork S et al. Fabry disease and the heart. Best Pract Res Clin Endocrinol Metab 2015; 29 (2): 195–204.
13. Moller AT, JensenTS. Neurological manifestations in Fabry’s disease. Nat Clin Pract Neurol 2007; 3 (2): 95–106.
14. Фирсов К.В., Котов С.В. Неврологические проявления при болезни Фабри. Обзор литературы. Журн. неврологии и психиатрии им. С.С.Корсакова. 2016; 116 (9): 98–105. / Firsov K.V., Kotov S.V. Nevrologicheskie proiavleniia pri bolezni Fabri. Obzor literatury. Zhurn. nevrologii i psikhiatrii im. S.S.Korsakova. 2016; 116 (9): 98–105. [in Russian]
15. Кольцова Е.А., Кимельфельд Е.И., Стаховская Л.В. Болезнь Фабри. Фарматека. 2017; 9 (342): 71–8. / Kol'tsova E.A., Kimel'fel'd E.I., Stakhovskaia L.V. Bolezn' Fabri. Farmateka. 2017; 9 (342): 71–8. [in Russian]
16. Ashton-Prolla P, Tong B, Shabbeer J et al. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Investig Med 2000; 48 (4): 227–35.
17. Gal A. Molecular genetics of Fabry disease and genotype–phenotype correlation. In: Fabry Disease. Ed. by D. Elstein, G. Altarescu, M. Beck. Dordrecht; Heidelberg; London; N.Y.: Springer, 2010; p. 3–19.
18. Banikazemi M, Bultas J, Waldek S et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 2007; 146: 77–86.
19. Grewal RP. Stroke in Fabry’s disease. J Neurol 1994; 241 (3): 153–6.
20. Schiffmann R, Ries M. Fabry’s disease – an important risk factor for stroke. Lancet 2005; 366 (9499): 1754–6.
21. Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke 2009; 40: 788–94.
22. Kolodny E, Fellgiebel A, Hilz MJ et al. Cerebrovascular involvement in Fabry disease: current status of knowledge. Stroke 2015; 46: 302–13.
23. Metha A, Ginsberg L. Natural history of the cerebrovascular complications of Fabry disease. Acta Paediatr 2005; 94: 24–7.
24. Ginsberg I, Valentine A, Mehta A. Neurological rarity – Fabry disease. Practical Neurology 2005; 5: 110–3.
25. Rolfs A, Bottcher T, Zschiesche M et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 2005; 366: 1794–6.
26. Rolfs A, Fazekas F, Grittner U et al. Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study. Stroke 2013; 44: 340–9.
27. Mogi M, Horiuchi M. Clinical interaction between brain and kidney in small vessel disease. Cardiol Res Pract 2011; 2011: 306189.
28. Meikle PJ, Hopwood JJ, Clague AE, Carrey WF. Prevalence of lysosomal storage disorders. JAMA 1999; 281: 249–54. DOI:10.1001/jama.281.3.249
29. Spada M, Pagliardini S, Yasuda M et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 2006; 79: 31–40. DOI: 10.1086/504601
30. Baptista MV, Ferreira S, Pinho-E-Melo T et al. PORTuguese Young STROKE Investigators. Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study – screening genetic conditions in Portuguese young stroke patients. Stroke 2010; 41 (5): 431–6.
31. Brouns R, Thijs V, Eyskens F et al. BeFaS Investigators. Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease. Stroke 2010; 41 (5): 863–8.
32. Kotanko P, Kramar R, Devrnja D et al. Results of a nationwide screening for Anderson–Fabry disease among dialysis patients. J Am Soc Nephrol 2004; 15 (5): 1323–9.
33. Merta M, Reiterova J, Ledvinova J et al. A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population. Nephrol Dial Transplant 2007; 22 (1): 179–86.
34. Uyama E, Ueno N, Uchino M et al. Headache associated with aseptic meningeal reaction as clinical onset of Fabry's disease. Headache 1995; 35 (8): 498–501.
35. Lidove O, Chauveheid MP, Caillaud C et al. Aseptic meningitis and ischaemic stroke in Fabry disease. Int J Clin Pract 2009; 63 (11): 1663–7. DOI: 10.1111/j.1742-1241.2009.02115.x
36. Markus Kraemer N, Karabul P, Berlit A. Rolfs Evidence for inflammation in Fabry’s disease? Headache and muscle involvement responding to corticosteroid and methotrexate treatment. J Neurol 2017. DOI: 10.1007/s00415-017-8392-4
2. Evtushenko S.K., Filimonov D.A. Rol' gomotsisteina v razvitii ishemicheskikh insul'tov u lits molodogo vozrasta (obzor literatury i lichnye nabliudeniia). Mezhdunar. nevrologicheskii zhurn. 2013; 61 (7): 19–30. [in Russian]
3. Kuzenkova L.M., Namazova-Baranova L.S., Podkletnova T.V i dr. Bolezn' Fabri: osobennosti zabolevaniia u detei i podrostkov. Vopr. sovrem. pediatrii. 2015; 14 (3): 341–8. DOI: 10.15690/vsp.v14i3.1369 [in Russian]
4. Mehta A, Ricci R, Widmer U et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004; 34 (3): 236–42.
5. Ramaswami U, Whybra C, Parini R et al. FOS European Investigators. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr 2006; 95: 86–92.
6. Schiffmann R. Fabry disease. Pharmacol Ther 2009; 122: 65–77.
7. Brady RO, Gal AE, Bradley RM et al. Enzymatic defect in Fabry’s disease. Ceramide-trihexosidase deficiency. N Engl J Med 1967; 276: 1163-7.
8. Kint JA. Fabry’s disease: a-galactosidase deficiency. Science 1970; 167: 1268–9.
9. Salogub G.N. Klinicheskaia geterogennost' bolezni Fabri. Nervno-myshechnye bolezni. 2015; 5 (4): 39–45. DOI: 10.17 650 / 2222-8721-2015-5-4-39-46 [in Russian]
10. Golivets L.T., Kruglova O.V., Gusarova E.A. i dr. Bolezn' Fabri – nasledstvennoe metabolicheskoe zabolevanie nervnoi sistemy. Nervnye bolezni. 2016; 1: 36–47. [in Russian]
11. Sommer C, Uceyler N, Duning T et al. Pain therapy for Fabry’s disease. Internist (Berl) 2013; 54 (1): 121–2.
12. Seydelmann N, Wanner C, Stork S et al. Fabry disease and the heart. Best Pract Res Clin Endocrinol Metab 2015; 29 (2): 195–204.
13. Moller AT, JensenTS. Neurological manifestations in Fabry’s disease. Nat Clin Pract Neurol 2007; 3 (2): 95–106.
14. Firsov K.V., Kotov S.V. Nevrologicheskie proiavleniia pri bolezni Fabri. Obzor literatury. Zhurn. nevrologii i psikhiatrii im. S.S.Korsakova. 2016; 116 (9): 98–105. [in Russian]
15. Kol'tsova E.A., Kimel'fel'd E.I., Stakhovskaia L.V. Bolezn' Fabri. Farmateka. 2017; 9 (342): 71–8. [in Russian]
16. Ashton-Prolla P, Tong B, Shabbeer J et al. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Investig Med 2000; 48 (4): 227–35.
17. Gal A. Molecular genetics of Fabry disease and genotype–phenotype correlation. In: Fabry Disease. Ed. by D. Elstein, G. Altarescu, M. Beck. Dordrecht; Heidelberg; London; N.Y.: Springer, 2010; p. 3–19.
18. Banikazemi M, Bultas J, Waldek S et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 2007; 146: 77–86.
19. Grewal RP. Stroke in Fabry’s disease. J Neurol 1994; 241 (3): 153–6.
20. Schiffmann R, Ries M. Fabry’s disease – an important risk factor for stroke. Lancet 2005; 366 (9499): 1754–6.
21. Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke 2009; 40: 788–94.
22. Kolodny E, Fellgiebel A, Hilz MJ et al. Cerebrovascular involvement in Fabry disease: current status of knowledge. Stroke 2015; 46: 302–13.
23. Metha A, Ginsberg L. Natural history of the cerebrovascular complications of Fabry disease. Acta Paediatr 2005; 94: 24–7.
24. Ginsberg I, Valentine A, Mehta A. Neurological rarity – Fabry disease. Practical Neurology 2005; 5: 110–3.
25. Rolfs A, Bottcher T, Zschiesche M et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 2005; 366: 1794–6.
26. Rolfs A, Fazekas F, Grittner U et al. Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study. Stroke 2013; 44: 340–9.
27. Mogi M, Horiuchi M. Clinical interaction between brain and kidney in small vessel disease. Cardiol Res Pract 2011; 2011: 306189.
28. Meikle PJ, Hopwood JJ, Clague AE, Carrey WF. Prevalence of lysosomal storage disorders. JAMA 1999; 281: 249–54. DOI:10.1001/jama.281.3.249
29. Spada M, Pagliardini S, Yasuda M et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 2006; 79: 31–40. DOI: 10.1086/504601
30. Baptista MV, Ferreira S, Pinho-E-Melo T et al. PORTuguese Young STROKE Investigators. Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study – screening genetic conditions in Portuguese young stroke patients. Stroke 2010; 41 (5): 431–6.
31. Brouns R, Thijs V, Eyskens F et al. BeFaS Investigators. Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease. Stroke 2010; 41 (5): 863–8.
32. Kotanko P, Kramar R, Devrnja D et al. Results of a nationwide screening for Anderson–Fabry disease among dialysis patients. J Am Soc Nephrol 2004; 15 (5): 1323–9.
33. Merta M, Reiterova J, Ledvinova J et al. A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population. Nephrol Dial Transplant 2007; 22 (1): 179–86.
34. Uyama E, Ueno N, Uchino M et al. Headache associated with aseptic meningeal reaction as clinical onset of Fabry's disease. Headache 1995; 35 (8): 498–501.
35. Lidove O, Chauveheid MP, Caillaud C et al. Aseptic meningitis and ischaemic stroke in Fabry disease. Int J Clin Pract 2009; 63 (11): 1663–7. DOI: 10.1111/j.1742-1241.2009.02115.x
36. Markus Kraemer N, Karabul P, Berlit A. Rolfs Evidence for inflammation in Fabry’s disease? Headache and muscle involvement responding to corticosteroid and methotrexate treatment. J Neurol 2017. DOI: 10.1007/s00415-017-8392-4
2. Евтушенко С.К., Филимонов Д.А. Роль гомоцистеина в развитии ишемических инсультов у лиц молодого возраста (обзор литературы и личные наблюдения). Междунар. неврологический журн. 2013; 61 (7): 19–30. / Evtushenko S.K., Filimonov D.A. Rol' gomotsisteina v razvitii ishemicheskikh insul'tov u lits molodogo vozrasta (obzor literatury i lichnye nabliudeniia). Mezhdunar. nevrologicheskii zhurn. 2013; 61 (7): 19–30. [in Russian]
3. Кузенкова Л.М., Намазова-Баранова Л.С., Подклетнова Т.В и др. Болезнь Фабри: особенности заболевания у детей и подростков. Вопр. соврем. педиатрии. 2015; 14 (3): 341–8. DOI: 10.15690/vsp.v14i3.1369 / Kuzenkova L.M., Namazova-Baranova L.S., Podkletnova T.V i dr. Bolezn' Fabri: osobennosti zabolevaniia u detei i podrostkov. Vopr. sovrem. pediatrii. 2015; 14 (3): 341–8. DOI: 10.15690/vsp.v14i3.1369 [in Russian]
4. Mehta A, Ricci R, Widmer U et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004; 34 (3): 236–42.
5. Ramaswami U, Whybra C, Parini R et al. FOS European Investigators. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr 2006; 95: 86–92.
6. Schiffmann R. Fabry disease. Pharmacol Ther 2009; 122: 65–77.
7. Brady RO, Gal AE, Bradley RM et al. Enzymatic defect in Fabry’s disease. Ceramide-trihexosidase deficiency. N Engl J Med 1967; 276: 1163-7.
8. Kint JA. Fabry’s disease: a-galactosidase deficiency. Science 1970; 167: 1268–9.
9. Салогуб Г.Н. Клиническая гетерогенность болезни Фабри. Нервно-мышечные болезни. 2015; 5 (4): 39–45. DOI: 10.17 650 / 2222-8721-2015-5-4-39-46 / Salogub G.N. Klinicheskaia geterogennost' bolezni Fabri. Nervno-myshechnye bolezni. 2015; 5 (4): 39–45. DOI: 10.17 650 / 2222-8721-2015-5-4-39-46 [in Russian]
10. Голивец Л.Т., Круглова О.В., Гусарова Е.А. и др. Болезнь Фабри – наследственное метаболическое заболевание нервной системы. Нервные болезни. 2016; 1: 36–47. / Golivets L.T., Kruglova O.V., Gusarova E.A. i dr. Bolezn' Fabri – nasledstvennoe metabolicheskoe zabolevanie nervnoi sistemy. Nervnye bolezni. 2016; 1: 36–47. [in Russian]
11. Sommer C, Uceyler N, Duning T et al. Pain therapy for Fabry’s disease. Internist (Berl) 2013; 54 (1): 121–2.
12. Seydelmann N, Wanner C, Stork S et al. Fabry disease and the heart. Best Pract Res Clin Endocrinol Metab 2015; 29 (2): 195–204.
13. Moller AT, JensenTS. Neurological manifestations in Fabry’s disease. Nat Clin Pract Neurol 2007; 3 (2): 95–106.
14. Фирсов К.В., Котов С.В. Неврологические проявления при болезни Фабри. Обзор литературы. Журн. неврологии и психиатрии им. С.С.Корсакова. 2016; 116 (9): 98–105. / Firsov K.V., Kotov S.V. Nevrologicheskie proiavleniia pri bolezni Fabri. Obzor literatury. Zhurn. nevrologii i psikhiatrii im. S.S.Korsakova. 2016; 116 (9): 98–105. [in Russian]
15. Кольцова Е.А., Кимельфельд Е.И., Стаховская Л.В. Болезнь Фабри. Фарматека. 2017; 9 (342): 71–8. / Kol'tsova E.A., Kimel'fel'd E.I., Stakhovskaia L.V. Bolezn' Fabri. Farmateka. 2017; 9 (342): 71–8. [in Russian]
16. Ashton-Prolla P, Tong B, Shabbeer J et al. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Investig Med 2000; 48 (4): 227–35.
17. Gal A. Molecular genetics of Fabry disease and genotype–phenotype correlation. In: Fabry Disease. Ed. by D. Elstein, G. Altarescu, M. Beck. Dordrecht; Heidelberg; London; N.Y.: Springer, 2010; p. 3–19.
18. Banikazemi M, Bultas J, Waldek S et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 2007; 146: 77–86.
19. Grewal RP. Stroke in Fabry’s disease. J Neurol 1994; 241 (3): 153–6.
20. Schiffmann R, Ries M. Fabry’s disease – an important risk factor for stroke. Lancet 2005; 366 (9499): 1754–6.
21. Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke 2009; 40: 788–94.
22. Kolodny E, Fellgiebel A, Hilz MJ et al. Cerebrovascular involvement in Fabry disease: current status of knowledge. Stroke 2015; 46: 302–13.
23. Metha A, Ginsberg L. Natural history of the cerebrovascular complications of Fabry disease. Acta Paediatr 2005; 94: 24–7.
24. Ginsberg I, Valentine A, Mehta A. Neurological rarity – Fabry disease. Practical Neurology 2005; 5: 110–3.
25. Rolfs A, Bottcher T, Zschiesche M et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 2005; 366: 1794–6.
26. Rolfs A, Fazekas F, Grittner U et al. Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study. Stroke 2013; 44: 340–9.
27. Mogi M, Horiuchi M. Clinical interaction between brain and kidney in small vessel disease. Cardiol Res Pract 2011; 2011: 306189.
28. Meikle PJ, Hopwood JJ, Clague AE, Carrey WF. Prevalence of lysosomal storage disorders. JAMA 1999; 281: 249–54. DOI:10.1001/jama.281.3.249
29. Spada M, Pagliardini S, Yasuda M et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 2006; 79: 31–40. DOI: 10.1086/504601
30. Baptista MV, Ferreira S, Pinho-E-Melo T et al. PORTuguese Young STROKE Investigators. Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study – screening genetic conditions in Portuguese young stroke patients. Stroke 2010; 41 (5): 431–6.
31. Brouns R, Thijs V, Eyskens F et al. BeFaS Investigators. Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease. Stroke 2010; 41 (5): 863–8.
32. Kotanko P, Kramar R, Devrnja D et al. Results of a nationwide screening for Anderson–Fabry disease among dialysis patients. J Am Soc Nephrol 2004; 15 (5): 1323–9.
33. Merta M, Reiterova J, Ledvinova J et al. A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population. Nephrol Dial Transplant 2007; 22 (1): 179–86.
34. Uyama E, Ueno N, Uchino M et al. Headache associated with aseptic meningeal reaction as clinical onset of Fabry's disease. Headache 1995; 35 (8): 498–501.
35. Lidove O, Chauveheid MP, Caillaud C et al. Aseptic meningitis and ischaemic stroke in Fabry disease. Int J Clin Pract 2009; 63 (11): 1663–7. DOI: 10.1111/j.1742-1241.2009.02115.x
36. Markus Kraemer N, Karabul P, Berlit A. Rolfs Evidence for inflammation in Fabry’s disease? Headache and muscle involvement responding to corticosteroid and methotrexate treatment. J Neurol 2017. DOI: 10.1007/s00415-017-8392-4
________________________________________________
2. Evtushenko S.K., Filimonov D.A. Rol' gomotsisteina v razvitii ishemicheskikh insul'tov u lits molodogo vozrasta (obzor literatury i lichnye nabliudeniia). Mezhdunar. nevrologicheskii zhurn. 2013; 61 (7): 19–30. [in Russian]
3. Kuzenkova L.M., Namazova-Baranova L.S., Podkletnova T.V i dr. Bolezn' Fabri: osobennosti zabolevaniia u detei i podrostkov. Vopr. sovrem. pediatrii. 2015; 14 (3): 341–8. DOI: 10.15690/vsp.v14i3.1369 [in Russian]
4. Mehta A, Ricci R, Widmer U et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004; 34 (3): 236–42.
5. Ramaswami U, Whybra C, Parini R et al. FOS European Investigators. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr 2006; 95: 86–92.
6. Schiffmann R. Fabry disease. Pharmacol Ther 2009; 122: 65–77.
7. Brady RO, Gal AE, Bradley RM et al. Enzymatic defect in Fabry’s disease. Ceramide-trihexosidase deficiency. N Engl J Med 1967; 276: 1163-7.
8. Kint JA. Fabry’s disease: a-galactosidase deficiency. Science 1970; 167: 1268–9.
9. Salogub G.N. Klinicheskaia geterogennost' bolezni Fabri. Nervno-myshechnye bolezni. 2015; 5 (4): 39–45. DOI: 10.17 650 / 2222-8721-2015-5-4-39-46 [in Russian]
10. Golivets L.T., Kruglova O.V., Gusarova E.A. i dr. Bolezn' Fabri – nasledstvennoe metabolicheskoe zabolevanie nervnoi sistemy. Nervnye bolezni. 2016; 1: 36–47. [in Russian]
11. Sommer C, Uceyler N, Duning T et al. Pain therapy for Fabry’s disease. Internist (Berl) 2013; 54 (1): 121–2.
12. Seydelmann N, Wanner C, Stork S et al. Fabry disease and the heart. Best Pract Res Clin Endocrinol Metab 2015; 29 (2): 195–204.
13. Moller AT, JensenTS. Neurological manifestations in Fabry’s disease. Nat Clin Pract Neurol 2007; 3 (2): 95–106.
14. Firsov K.V., Kotov S.V. Nevrologicheskie proiavleniia pri bolezni Fabri. Obzor literatury. Zhurn. nevrologii i psikhiatrii im. S.S.Korsakova. 2016; 116 (9): 98–105. [in Russian]
15. Kol'tsova E.A., Kimel'fel'd E.I., Stakhovskaia L.V. Bolezn' Fabri. Farmateka. 2017; 9 (342): 71–8. [in Russian]
16. Ashton-Prolla P, Tong B, Shabbeer J et al. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Investig Med 2000; 48 (4): 227–35.
17. Gal A. Molecular genetics of Fabry disease and genotype–phenotype correlation. In: Fabry Disease. Ed. by D. Elstein, G. Altarescu, M. Beck. Dordrecht; Heidelberg; London; N.Y.: Springer, 2010; p. 3–19.
18. Banikazemi M, Bultas J, Waldek S et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 2007; 146: 77–86.
19. Grewal RP. Stroke in Fabry’s disease. J Neurol 1994; 241 (3): 153–6.
20. Schiffmann R, Ries M. Fabry’s disease – an important risk factor for stroke. Lancet 2005; 366 (9499): 1754–6.
21. Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke 2009; 40: 788–94.
22. Kolodny E, Fellgiebel A, Hilz MJ et al. Cerebrovascular involvement in Fabry disease: current status of knowledge. Stroke 2015; 46: 302–13.
23. Metha A, Ginsberg L. Natural history of the cerebrovascular complications of Fabry disease. Acta Paediatr 2005; 94: 24–7.
24. Ginsberg I, Valentine A, Mehta A. Neurological rarity – Fabry disease. Practical Neurology 2005; 5: 110–3.
25. Rolfs A, Bottcher T, Zschiesche M et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 2005; 366: 1794–6.
26. Rolfs A, Fazekas F, Grittner U et al. Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study. Stroke 2013; 44: 340–9.
27. Mogi M, Horiuchi M. Clinical interaction between brain and kidney in small vessel disease. Cardiol Res Pract 2011; 2011: 306189.
28. Meikle PJ, Hopwood JJ, Clague AE, Carrey WF. Prevalence of lysosomal storage disorders. JAMA 1999; 281: 249–54. DOI:10.1001/jama.281.3.249
29. Spada M, Pagliardini S, Yasuda M et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 2006; 79: 31–40. DOI: 10.1086/504601
30. Baptista MV, Ferreira S, Pinho-E-Melo T et al. PORTuguese Young STROKE Investigators. Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study – screening genetic conditions in Portuguese young stroke patients. Stroke 2010; 41 (5): 431–6.
31. Brouns R, Thijs V, Eyskens F et al. BeFaS Investigators. Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease. Stroke 2010; 41 (5): 863–8.
32. Kotanko P, Kramar R, Devrnja D et al. Results of a nationwide screening for Anderson–Fabry disease among dialysis patients. J Am Soc Nephrol 2004; 15 (5): 1323–9.
33. Merta M, Reiterova J, Ledvinova J et al. A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population. Nephrol Dial Transplant 2007; 22 (1): 179–86.
34. Uyama E, Ueno N, Uchino M et al. Headache associated with aseptic meningeal reaction as clinical onset of Fabry's disease. Headache 1995; 35 (8): 498–501.
35. Lidove O, Chauveheid MP, Caillaud C et al. Aseptic meningitis and ischaemic stroke in Fabry disease. Int J Clin Pract 2009; 63 (11): 1663–7. DOI: 10.1111/j.1742-1241.2009.02115.x
36. Markus Kraemer N, Karabul P, Berlit A. Rolfs Evidence for inflammation in Fabry’s disease? Headache and muscle involvement responding to corticosteroid and methotrexate treatment. J Neurol 2017. DOI: 10.1007/s00415-017-8392-4
Авторы
Е.И.Кимельфельд*1, В.В.Гудкова1, А.Г.Гуцалюк2, А.Ф.Юшков2, Н.Н.Волкова2, Е.А.Кольцова1, Л.В.Стаховская1
1 ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И.Пирогова» Минздрава России. 117997, Россия, Москва, ул. Островитянова, д. 1;
2 ГБУЗ «Госпиталь для ветеранов войн №3» Департамента здравоохранения г. Москвы. 129336, Россия, Москва, ул. Стартовая, д. 4
*ekovita@mail.ru
1 N.I.Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation. 117997, Russian Federation, Moscow,ul. Ostrovitianova, d. 1;
2 Hospital for War Veterans №3 of the Department of Health of Moscow. 129336, Russian Federation, Moscow, ul. Startovaya, d. 4
*ekovita@mail.ru
1 ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И.Пирогова» Минздрава России. 117997, Россия, Москва, ул. Островитянова, д. 1;
2 ГБУЗ «Госпиталь для ветеранов войн №3» Департамента здравоохранения г. Москвы. 129336, Россия, Москва, ул. Стартовая, д. 4
*ekovita@mail.ru
________________________________________________
1 N.I.Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation. 117997, Russian Federation, Moscow,ul. Ostrovitianova, d. 1;
2 Hospital for War Veterans №3 of the Department of Health of Moscow. 129336, Russian Federation, Moscow, ul. Startovaya, d. 4
*ekovita@mail.ru
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