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Cовременные представления о клинике, диагностике и терапии болезни Фабри

https://doi.org/10.25557/2073-7998.2021.06.3-13

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Аннотация

Обзор литературы посвящён болезни Фабри (БФ) - редкому наследственному заболеванию. В нем представлен всесторонний анализ современных эпидемиологических данных и особенностей этиопатогенеза БФ, а также даны клинико-патогенетические характеристики различных типов БФ. Подробно описана роль фермента α-галактозидазы А и биомаркера глоботриаозилсфингозина (лизо-Гб3) при БФ. Изложены и указаны ключевые этапы биохимического и молекулярно-генетического поиска в диагностике данной патологии, описаны современные возможности терапии.

Об авторах

Н. Н. Мазанова
ФГАУ «Национальный Медицинский Исследовательский Центр здоровья детей» Минздрава России; ФГАОУ ВО Первый Московский государственный медицинский университет имени И.М. Сеченова Министерства здравоохранения Российской Федерации (Сеченовский Университет)
Россия


А. Ю. Асанов
ФГАОУ ВО Первый Московский государственный медицинский университет имени И.М. Сеченова Министерства здравоохранения Российской Федерации (Сеченовский Университет)
Россия


М. И. Баканов
ФГАУ «Национальный Медицинский Исследовательский Центр здоровья детей» Минздрава России
Россия


И. Ю. Чебеляев
ФГАОУ ВО Первый Московский государственный медицинский университет имени И.М. Сеченова Министерства здравоохранения Российской Федерации (Сеченовский Университет)
Россия


К. В. Савостьянов
ФГАУ «Национальный Медицинский Исследовательский Центр здоровья детей» Минздрава России
Россия


Список литературы

1. Clarke J. et al. Clinical Guide to Inherited Metabolic Diseases. Cambridge University Press. 2005. P. 358.

2. Fabry J. Ein Beitrag zur Kenntnis der Purpura Haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae). Archiv fur Dermatologie und syphilis. Berlin, 1898. No. 43. Pp. 187-200.

3. Anderson W.E., Griffing G.T. Type VI Glycogen Storage Disease. Medscape. 2019 (Feb). Available at: https:emedicine.medscape.com. articl.119873-overview.

4. Пулин А.А., Фомин В.В, Бровко М.Ю. и др. Трудности диагностики и лечения болезни Фабри. Клин фармакол тер. 2014; 23(2): 62-68.

5. http://www.hgmd.cf.ac.uk/ac/gene.php?gene=GLA

6. Bernstein H.S., Bishop D.F., Astrin K.H., et al. Fabry disease: six gena rearrangements and an exonic point mutation in the alphagalactosidase gene. J Clin Invest 1989; 83: 1390-1399.

7. Wang R.Y., Lelis A., Mirocha J,. et.al. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet. Med. 2007; 9(1):34-45.

8. Кобринский Б.А. Континуум переходных состояний организма и мониторинг динамики здоровья детей: Монография. 2-е изд. Москва-Берлин: Direct-Media, 2016. 220 c.

9. Ortiz A., Germain D.P., Desnick R.J. et al. Fabry disease revisited: Management and treatment recommendations for adult patients. Molecular Genetics and Metabolism. 2018;123(4): 416-27.

10. Van der Veen S.J., Hollak C.E.M., van Kuilenburg et al. Developments in the treatment of Fabry disease. J Inherit Metab Dis. 2020 Sep;43(5):908-921. doi: 10.1002/jimd.12228.

11. Meikle P.J. et al. Prevalence of lysosomal storage disorders. Journal of the American Medical Association. 1999; 281(3):249-254.

12. Wittmann J., Karg E., Turi S. et al. Newborn Screening for Lysosomal Storage Disorders in Hungary. JIMD Rep. 2012; 6:117-125.

13. Poorthuis B.J., Wevers R.A., Kleijer W.J. et al. The frequency of lysosomal storage diseases in Netherlands. Hum Genet. 1999; 105:151-156.

14. Spada M. et al. High incidence of later-onset Fabry disease revealed by newborn screening. American Journal of Human Genetics. 2006;79(1): 31-40.

15. MacDermot K.D., Holmes A., Miners A.H. Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males. Journal of Medical Genetics. 2001; 38(11):750-760.

16. Popli S. et al. Demonstration of Fabry’s disease deposits in placenta. American Journal of Obstetrics and Gynecology. 1990; 162(2): 464-465.

17. Hwu W.L. et al. Newborn screening for fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Human Mutation. 2009; 30(10): 1397-1405.

18. Asuman Özkara H., Topçu M. Sphingolipidoses in Turkey. Brain and Development. 2004; 26(6): 363-366.

19. Pinto R. et al. Prevalence of lysosomal storage diseases in Portugal. European Journal of Human Genetics. 2004; 12(2):87-92.

20. Colon C. et al. Newborn screening for Fabry disease in the north-west of Spain. European Journal of Pediatrics. 2017; 176(8):1075-1081.

21. Mechtler T.P. et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet. 2012; 9813 (379): 335-41.

22. Burton B.K. et al. Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience. The Journal of pediatrics. 2017;190:130-135.

23. Sakuraba H. et al. Fabry disease in a Japanese population-molecular and biochemical characteristics. Molecular genetics and metabolism reports. 2018;17:73-79.

24. Spada M., Pagliardini S., Yasuda M. et al. High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening. Am. J. Hum. Gemet. 2006; 79(1): 31-40.

25. Hwu W.L., Chien Y.H., Lee N.C. et al. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum. Mutat. 2009; 30(10): 1397-1405.

26. Sims K., Politei J., Banikazemi M. et al. 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; 40:788-794.

27. Metha A., Ricci R., Widmer U., Dehoul F., Garcia de Lorenzo A., Kampmann C., et.al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004; 34(3):236-242.

28. Nakao S., Kodama C., Takenaka T. et.al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a ‘‘renal variant’’ phenotype. Kidney Int. 2003; 64(3):801-807.

29. Ishii S., Nakao S., Nakao., Minamikawa Tachino R. et al. Alternative splicing in the α-Galactosidase a gene: increased exon inclusion results in the Fabry cardiac phenotype. Am. J. Hum Genet. 2002; 70(4): 994-1002.

30. Biegstraaten M. et al. Small fiber neuropathy in Fabry disease. Mol genet Metab 2012; 106(2):135-41.

31. Germain D.P. Fabrys disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects J Soc Biol 2002; 196: 161-173.

32. Rost N.S., Cloonan L., Kanakis A.S. et al. Determinants of wile matter hyperintensity burden in patients with Fabry disease. Neurology 2016; 86(2):1880-6.

33. Моисеев С.В. Поражение сердца при болезни Фабри: как заподозрить, диагностировать и лечить? Клин фармакол тер 2012;21(3):72-7.

34. Hughes D., Elliott P., Shah J. et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomized, double βlind, placebo controlled clinical trial of agalsidase alfa. Heart 2008; 94(2):153-8.

35. Fervenza F.C., Torra R., Lager D.J. Fabry disease: an underrecognized cause of proteinuria. Kidney Int 2008; 73:1193-1199.

36. Schiffmann R., Warnock D.G., Banikazemi M., et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009; 24:2102-2111.

37. Sodi A., Ioannidis A.S., Mehta A., et al. Ocular manifestations of Fabry’s disease: data from the Fabry Outcome Survey. Br J Ophthalmol 2007; 91:210-214.

38. Sakurai Y., Kojima H., Shiwa M., et al. The hearing status in 12 female and 15 male Japanese Fabry patients. Auris Nasus Larynx 2009; 36:627-632.

39. Zampetti et al. Angiokeratoma decision-making and for the diagnosis of Fabry disease. British J of Dermat 2012; 166:712-720.

40. Hoffmann B., Schwarz M., Mehta A. et al. Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin Gastroenterol Hepatol 2007; 5:1447-1453.

41. Magage S., Lubanda J.C., Susa Z., et al. Natural history of the respiratory involvement in Anderson-Fabry disease. J Interit Metab Dis 2007; 30:790-799.

42. Germain D.P. Bone and muscle involvement in Fabry disease. NewYork, 2010:293-298.

43. Charrow J. A 14-year-old boy with pain in hands and feet. Pediatr Ann. 2009; 38:190-192.

44. MacDermot K.D., Holmes A., Miners A.H. Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. Journal of Medical Genetics. 2001; 38(11):769-775.

45. Papaxanthos-Roche A., Deminiere C., Bauduer F., et al. Azoospermia as a new feature of Fabry disease. Fertil Steril 2007; 88:212.e215-218.

46. Hauser A.C., Gessl A., Lorenz M., et al. High prevalence of subclinical hypothyroidism in patients with Anderson-Fabry disease. J Inherit Metab Dis 2005; 28:715-722.

47. Oliveira J.P., Valbuena C., Baldaia Moreira A., et al. Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson-Fabry disease. Virchows Arch 2008; 453:291-300.

48. Ries M., Gupta S., Moore D.F., et al. Pediatric Fabry disease. Pediatrics 2005; 115:e344-355.

49. Ramaswami U. et al. Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey. Acta Paediatrica, International Journal of Paediatrics. 2006; 95(1): 86-92.

50. Meikle J., Hopwood J.J., A. Clague E. et al. Prevalence of lysosomal storage disorders. JAMA. 1999; 281(3):249-254.

51. Olivova P., der Veen K.V., Culien E. et al. Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper. Clin Chim Acta 2009; 403: 159-162.

52. Merchesoni C.L., Roa N., Pardal M. et al. Misdiagnosis in Fabry disease. J. Pediatr. 2010; 156(5):828-831.

53. Sakuraba H., Togawa T., Tsukimura T. et al. Plasma lyso-Gb3: a biomarker for monitoring Fabry patients during enzyme replacement therapy. Clin Exp Nephrol. 2018;22(4): 843-9.

54. Heather J.M., Chain B. The sequence of sequencers: The history of sequencing DNA. Genomics. 2016;107(1): 1 - 8.

55. Oliveira J.P., Ferreira S. Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype- phenotype correlations. Appl Clin Genet. 2019; 12:35-50. doi: 10.2147/TACG.S146022.

56. MacDermot K.D., Holmes A., Miners A.H. Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. Journal of Medical Genetics. 2001; 38(11):769-775.

57. MacDermot K.D., Holmes A., Miners A.H. Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males. Journal of Medical Genetics. 2001; 38(11):750-760.

58. Kotanko P., Kramar R., Devrnja D. et al. Results of a Nationwide Screening for Anderson-Fabry J. Am. Soc. Nephrol. 2004; 15(5):1323-1329.

59. 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 Jan; 22(1):179-86.

60. Porsch D.B., Nunes A.C., Milani V. et al. Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report. Ren. Fail. 2008; 30(9): 825-830.

61. Gaspar P., Herrera J., Rodriguesу D. et al. Frequency of Fabry disease in male and female haemodialysis patients in Spain. BMC Med Genet. 2010; 11: 19.

62. Maruyama H., Takata T., Tsubata Y. et al. Screening of Male Dialysis Patients for Fabry Disease by Plasma Globotriaosylsphingosine. Clin J Am Soc Nephrol. 2013 Apr 5; 8(4): 629-636.

63. Moiseev S., Fomin V., Savostyanov K. et al. The Prevalence and Clinical Features of Fabry Disease in Hemodialysis Patients: Russian Nationwide Fabry Dialysis Screening Program. Clin Pract. 2019 Apr; 141(4): 249-255.

64. Sadasivan C., Chow J.T.Y., Sheng B., et al. Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy. PLoS One. 2020 Sep 28;15(9):e0239675. doi: 10.1371/journal.pone.0239675.

65. Sakuraba H., Murata-Ohsawa M., Kawashima I. et al. Comparison of the effects of agalsidasa alfa and agalsidasa beta on cultured human Fabry fibroblasts and Fabry mice. J Hum Genet 2006; 51:180-188.

66. Pisani A., Spinelli L., Visciano B. et al. Effects of switching from agalsidase beta to agalsidase alfa in 10 patients with Anderson-Fabry disease. JIMD Rep. 2013; 9:41-48.

67. Neufeld E.F. Lysosomal Storage Diseases. Annual Review of Biochemistry. 1991; 60(1): 257-280.


Для цитирования:


Мазанова Н.Н., Асанов А.Ю., Баканов М.И., Чебеляев И.Ю., Савостьянов К.В. Cовременные представления о клинике, диагностике и терапии болезни Фабри. Медицинская генетика. 2021;20(6):3-13. https://doi.org/10.25557/2073-7998.2021.06.3-13

For citation:


Mazanova N.N., Asanov A.Yu., Bakanov M.I., Chebelyaev I.G., Savostyanov K.V. Modern ideas about the clinic, diagnosis and therapy of Fabry disease. Medical Genetics. 2021;20(6):3-13. (In Russ.) https://doi.org/10.25557/2073-7998.2021.06.3-13

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ISSN 2073-7998 (Print)