Валеология: Здоровье, Болезнь, Выздоровление. 2021; : 81-86
НЕВРОЛОГИЧЕСКИЕ ПРОЯВЛЕНИЯ БОЛЕЗНИ ФАБРИ
Аннотация
Болезнь Фабри – это редкое Х-сцепленное наследственное заболевание, в основе которого лежат мутации гена GLA, вызывающие снижение активности лизосомного фермента α-галактозидазы А (α-ГАЛ А). Болезнь Фабри встречается во всех этнических группах, в общей популяции предполагаемая распространенность колеблется от 1 : 8 454 до 1 : 117 000 у мужчин. При болезни Фабри поражается как ЦНС, так и периферическая и вегетативная нервные системы.
Список литературы
1. Germain D. P. Fabry disease. Orphanet Journal of Rare Disease 2010 Nov; 5: 30.
2. Bernardes, T. P., Foresto, R. D., Kirsztajn, G. M. Fabry disease: genetics, pathology, and treatment // Rev Assoc Med Brass 2020; 66 (SUPPL 1); S. 10-16. doi: 10.1590/1806-9282.66.S1.10
3. Duro G., Zizzo C., Cammarata G., et al. Mutations in the GLA gene and LysoGb3: is it really Anderson–Fabry disease? International Journal of Molecular Sciences 2018 Dec; 19 (12): 3726
4. Fabry Monography. – 2007. – Genzyme Therapeutics. Oxford. – 27 p.
5. Spada M., Pagliardini S., Yasuda M., Tukel T., Thiagarajan G., Sakuraba H., et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet. 2006; 791): 31-40.
6. Hwu W. L., Chien Y. H., Lee N. C., Chiang S. C., Dobrovolny R., Huang A. C., Yeh H. Y., Chao M. C., Lin S. J., Kitagawa T., Desnick R. J., Hsu L. W. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA-mutation c. 936+919G>A (IVS4 + 919 G > A). Human Mutation 2009 Oct; 30 (10): 1397-405.
7. Ichinose M., Nakayama M., Ohashi T., Utsunomiya Y., Kobayashi M., Eto Y. Significance of screening for Fabry disease among male dialysis patients. Clin Exp Nephrol. 2005; 93): 228-32.
8. Porsch D. B., Nunes A. C., Milani V., Rossato L. B., Mattos C. B., Tsao M., et al. Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report. Ren Fail. 2008; 309): 825-30.
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11. Schiffmann R., Hughes D. A., Linthorst G. E., et al. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney Int 2017; 91 (2): 284-93.
12. Соболева М. К. Болезнь Фабри как яркий представитель болезней накопления (клинические аспекты, диагностика и терапия) / М. К. Соболева // Мать и дитя в Кузбассе. - 2009. - N. 4(39). - С. 10-14.
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14. Hilz M. J. Evaluation of peripheral and autonomic nerve function in Fabry disease // Acta Paediatr. Suppl. 2002. V. 91. P. 38–42.
15. Kolodny E., Fellgiebel A., Hilz M. J. et al. Cerebrovascular involvement in Fabry disease: current status of knowledge // Stroke. 2015. V. 46. P. 302–313.
16. 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. V. 40. P. 788–794.
17. Feldt-Rasmussen U. Fabry disease and early stroke // Stroke Res. Treat. 2011. V. 2011. P. 615218.
18. Rolfs A., Fazekas F., Grittner U. et al. Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study // Stroke. 2013. V. 44. P. 340–349.
19. Ginsberg L. Nervous system manifestations of Fabry disease: data from FOS – the Fabry Outcome Survey // Fabry Disease: Perspectives from 5 Years of FOS / Ed. by A. Mehta, M. Beck, G. Sunder-Plassmann. Oxford: Oxford Pharma Genesis, 2006. P. 227–232.
20. Cole A. L., Lee P. J., Hughes D. A. et al. Depression in adults with Fabry disease: a common and under-diagnosed problem // J. Inherit. Metab. Dis. 2007. V. 30. № 6. P. 943–951.
21. Eng C. M., Germain D. P., Banikazemi M. et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement // Genet. Med. 2006. V. 8. № 9. P. 539–548.
22. Ries M., Kim H. J., Zalewski C. K. et al. Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease // Brain. 2007. V. 130. Pt. 1. P. 143–150.
23. Keilmann A., Hegemann S., Conti G., Hajioff D. Fabry disease and the ear // Fabry Disease: Perspectives from 5 Years of FOS / Ed. by A. Mehta, M. Beck, G. Sunder-Plassmann. Oxford: Oxford Pharma Genesis, 2006. P. 241–247.
24. Balendran, S. et al. Diagnostic strategy for females suspected of Fabry disease // Clinical genetics. Vol. 97, Issue 4. P. 655-660. http://doi.org/10.1111/cge.13694
25. Fabry Disease / Ed. by D. Elstein, G. Altarescu, M. Beck. Dordrecht; Heidelberg; London; N. Y.: Springer, 2010.
26. Desnick R. J., Ioannou Y. A., Eng C. M. α-Galactosidase A deficiency: Fabry disease // The Metabolic and Molecular Bases of Inherited Нервные болезни 1*2016 http://atm-press.ru
27. Dana Doheny, Ram Srinivasan, Silvere Pagant, Brenden Chen, Makiko Yasuda Robert J Desnick. Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995–2017. J Med Genet 2018;0:1–8. doi:10.1136/jmedgenet-2017-105080
28. Smid B. E., van der Tol L., Biegstraaten M. et al. Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease // J. Med. Genet. 2015. V. 52. № 4. P. 262–268.
Valeology: Health - Illnes - recovery. 2021; : 81-86
NEUROLOGICAL MANIFESTATIONS OF FABRY'S DISEASE (LITERATURE REVIEW)
Abstract
Fairy disease is a rare X-linked inherited disorder based on mutations in the GLA gene that cause a decrease in the activity of the lysosomal enzyme α-galactosidase A. Fabry disease occurs in all ethnic groups, with an estimated prevalence in the general population ranging from 1 : 8,454 to 1 : 117,000 for men. In Fabry disease, both the central nervous system and the peripheral and autonomic nervous systems are affected.
References
1. Germain D. P. Fabry disease. Orphanet Journal of Rare Disease 2010 Nov; 5: 30.
2. Bernardes, T. P., Foresto, R. D., Kirsztajn, G. M. Fabry disease: genetics, pathology, and treatment // Rev Assoc Med Brass 2020; 66 (SUPPL 1); S. 10-16. doi: 10.1590/1806-9282.66.S1.10
3. Duro G., Zizzo C., Cammarata G., et al. Mutations in the GLA gene and LysoGb3: is it really Anderson–Fabry disease? International Journal of Molecular Sciences 2018 Dec; 19 (12): 3726
4. Fabry Monography. – 2007. – Genzyme Therapeutics. Oxford. – 27 p.
5. Spada M., Pagliardini S., Yasuda M., Tukel T., Thiagarajan G., Sakuraba H., et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet. 2006; 791): 31-40.
6. Hwu W. L., Chien Y. H., Lee N. C., Chiang S. C., Dobrovolny R., Huang A. C., Yeh H. Y., Chao M. C., Lin S. J., Kitagawa T., Desnick R. J., Hsu L. W. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA-mutation c. 936+919G>A (IVS4 + 919 G > A). Human Mutation 2009 Oct; 30 (10): 1397-405.
7. Ichinose M., Nakayama M., Ohashi T., Utsunomiya Y., Kobayashi M., Eto Y. Significance of screening for Fabry disease among male dialysis patients. Clin Exp Nephrol. 2005; 93): 228-32.
8. Porsch D. B., Nunes A. C., Milani V., Rossato L. B., Mattos C. B., Tsao M., et al. Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report. Ren Fail. 2008; 309): 825-30.
9. Sil'va K. A. Tselevoi skrining na bolezn' Fabri u muzhchin, nakhodyashchikhsya na gemodialize v Brazilii, podcherkivaet vazhnost' semeinogo skrininga / K. A. Sil'va [i dr.] – Nefron. – 2016/ – 1344): 221-30.
10. Karovaikina E. A. Skrining, diagnostika i lechenie bolezni Fabri / E. A. Karovaikina [i dr.] // Klin. farmakol. ter. – 2019. –28 (3): 68-74. – DOI 10.32756/0869-5490-2019-3-68-74.
11. Schiffmann R., Hughes D. A., Linthorst G. E., et al. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney Int 2017; 91 (2): 284-93.
12. Soboleva M. K. Bolezn' Fabri kak yarkii predstavitel' boleznei nakopleniya (klinicheskie aspekty, diagnostika i terapiya) / M. K. Soboleva // Mat' i ditya v Kuzbasse. - 2009. - N. 4(39). - S. 10-14.
13. Golivets, L. T. Bolezn' Fabri – nasledstvennoe metabolicheskoe zabolevanie nervnoi sistemy. Osnovnye klinicheskie proyavleniya, problemy diagnostiki i lecheniya / L. T. Golivets [i dr.] // Nervnye bolezni. - 2016. - N. 1.- C. 36-46.
14. Hilz M. J. Evaluation of peripheral and autonomic nerve function in Fabry disease // Acta Paediatr. Suppl. 2002. V. 91. P. 38–42.
15. Kolodny E., Fellgiebel A., Hilz M. J. et al. Cerebrovascular involvement in Fabry disease: current status of knowledge // Stroke. 2015. V. 46. P. 302–313.
16. 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. V. 40. P. 788–794.
17. Feldt-Rasmussen U. Fabry disease and early stroke // Stroke Res. Treat. 2011. V. 2011. P. 615218.
18. Rolfs A., Fazekas F., Grittner U. et al. Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study // Stroke. 2013. V. 44. P. 340–349.
19. Ginsberg L. Nervous system manifestations of Fabry disease: data from FOS – the Fabry Outcome Survey // Fabry Disease: Perspectives from 5 Years of FOS / Ed. by A. Mehta, M. Beck, G. Sunder-Plassmann. Oxford: Oxford Pharma Genesis, 2006. P. 227–232.
20. Cole A. L., Lee P. J., Hughes D. A. et al. Depression in adults with Fabry disease: a common and under-diagnosed problem // J. Inherit. Metab. Dis. 2007. V. 30. № 6. P. 943–951.
21. Eng C. M., Germain D. P., Banikazemi M. et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement // Genet. Med. 2006. V. 8. № 9. P. 539–548.
22. Ries M., Kim H. J., Zalewski C. K. et al. Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease // Brain. 2007. V. 130. Pt. 1. P. 143–150.
23. Keilmann A., Hegemann S., Conti G., Hajioff D. Fabry disease and the ear // Fabry Disease: Perspectives from 5 Years of FOS / Ed. by A. Mehta, M. Beck, G. Sunder-Plassmann. Oxford: Oxford Pharma Genesis, 2006. P. 241–247.
24. Balendran, S. et al. Diagnostic strategy for females suspected of Fabry disease // Clinical genetics. Vol. 97, Issue 4. P. 655-660. http://doi.org/10.1111/cge.13694
25. Fabry Disease / Ed. by D. Elstein, G. Altarescu, M. Beck. Dordrecht; Heidelberg; London; N. Y.: Springer, 2010.
26. Desnick R. J., Ioannou Y. A., Eng C. M. α-Galactosidase A deficiency: Fabry disease // The Metabolic and Molecular Bases of Inherited Nervnye bolezni 1*2016 http://atm-press.ru
27. Dana Doheny, Ram Srinivasan, Silvere Pagant, Brenden Chen, Makiko Yasuda Robert J Desnick. Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995–2017. J Med Genet 2018;0:1–8. doi:10.1136/jmedgenet-2017-105080
28. Smid B. E., van der Tol L., Biegstraaten M. et al. Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease // J. Med. Genet. 2015. V. 52. № 4. P. 262–268.
