Болезнь Фабри: основные органы-мишени у взрослых. Обзор литературы


DOI: https://dx.doi.org/10.18565/nephrology.2018.1.51-61

К.В. Фирсов, А.С. Котов

ГБУЗ МО «Московский областной научно-исследовательский клинический институт им. М.Ф. Владимирского»; Москва, Россия
Болезнь Фабри (болезнь Андерсона–Фабри) – Х-сцепленная рецессивная лизосомальная болезнь накопления, возникающая вследствие недостаточной активности лизосомальной гидролазы (альфа-галактозидазы А), приводящей к прогрессирующей аккумуляции глоботриаозилцерамида (Gb3) в различных клетках, преимущественно эндотелиальных и клетках гладкой мускулатуры сосудов, с поражением различных органов. Болезнь Фабри проявляется прогрессирующей почечной и сердечной недостаточностью, невропатической болью, инсультами, кожными и желудочно-кишечными симптомами. Клинические проявления начинаются в детстве, но у многих пациентов диагностируется только во взрослом состоянии. В данном обзоре приведены все основные аспекты заболевания: эпидемиология, патофизиология, клинические проявления в различных системах, диагностика, лечение, профилактика и воздействие на качество жизни.
Ключевые слова: болезнь, Фабри, Андерсон, агалсидаза альфа, агалсидаза бета

Литература


1. Hoffmann B., Mayatepek E. Fabry disease – a provocation for pediatrics. Klin. Padiatr. 2006;218(1):38–40. German. PubMed PMID: 16432775.

2. Hornbostel H., Scriba K. Excision of skin in diagnosis of Fabry,s angiokeratoma with cardiovasorenal syndrome as phosphatide storage disease. Klin. Wochen. 1953;31:68–69.

3. Sweeley C.C., Klionsky B. Fabry,s disease: classifications as a sphingolipidosis and partial characterization of a novel glycolipid. J. Biol. Chem 1963;238:3148–3150.

4. Fuller M., et al. In: Mehta A., Beck M., Sunder-Plassmann G., ed. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006.

5. Germain D.P. Fabry disease. Orphanet. J. Rare Dis. 2010;5:30. Doi: 10.1186/1750-1172-5-30.

6. Ferraz M.J., Kallemeijn W.W., Mirzaian M., et al. Gaucher disease and Fabry disease: new markers and insights in pathophysiology for two distinct glycosphingolipidoses. Biochim. Biophys. Acta. 2014;1841(5):811–25. Doi: 10.1016/j.bbalip.2013.11.004.

7. Schiffmann R., Moore D.F. Neurological manifestations of Fabry disease. In: Mehta A., Beck M., Sunder-Plassmann G., ed. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 22.

8. Mauhin W., Lidove O., Masat E., et al. Innate and Adaptive Immune Response in Fabry Disease. JIMD. Rep. 2015;22:1–10. Doi: 10.1007/8904_2014_371.

9. Фирсов К.В., Котов А.С. Неврологические проявления при болезни Фабри. Журнал неврологии и психиатрии им. C.C. Корсакова. 2016;116(9):98–105. Doi: 10.17116/jnevro 20161169198-105.

10. Фирсов К.В., Котов А.С. Неврологические проявления болезни Фабри у детей и подростков. Русский журнал детской неврологии. 2017;12(3):51–57. Doi: 10.17650/2073-8803-2017-12-3-51-57.

11. Sawai S. Fabry Disease: Pathogenesis, Clinical Symptoms, and Treatment with Enzyme Replacement Therapy. Brain Nerve. 2015;67(9):1099–108. Doi:10.11477/mf.1416200266.

12. Hopkin R.J., Jefferies J.L., Laney D.A., et al. Fabry Pediatric Expert Panel. The management and treatment of children with Fabry disease: A United States-based perspective. Mol. Genet. Metab. 2016;117(2):104–13. Doi: 10.1016/j.ymgme.2015.10.007.

13. Politei J., Thurberg B.L., Wallace E., et al. Gastrointestinal involvement in Fabry disease. So important, yet often neglected. Clin. Genet. 2016;89(1):5–9. Doi: 10.1111/cge.12673.

14. Buda P., Książyk J., Tylki-Szymanska A. Gastroenterological complications of Anderson-Fabry disease. Curr. Pharm. Des. 2013;19(33):6009–6013.

15. Keshav S. Gastrointestinal manifestations of Fabry disease. In: Mehta A., Beck M., Sunder-Plassmann G., ed. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 28.

16. Keilmann A., Hegemann S., Conti G., et al. Fabry disease and the ear. In: Mehta A., Beck M., Sunder-Plassmann G., ed. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 25.

17. Ries M., Kim H.J., Zalewski C.K., et al. Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease. Brain. 2007;130(Pt. 1):143–150.

18. Waldek S., Feriozzi S. Fabry nephropathy: a review – how can we optimize the management of Fabry nephropathy? BMC. Nephrol. 2014;15:72. Doi: 10.1186/1471-2369-15-72.

19. Basic-Jukic N., Kes P., Coric M., et al. Renal complications of Fabry disease. Curr. Pharm. Des. 2013;19(33):6046–6050.

20. Mursă A., Ginghină C., Jurcut R. Fabry disease – a primer for cardiologists. Rom. J. Intern. Med. 2014;52(4):216–222.

21. Namdar M. Electrocardiographic Changes and Arrhythmia in Fabry Disease. Front Cardiovasc. Med. 2016;3:7. Doi: 10.3389/fcvm.2016.00007.

22. Pieruzzi F., Pieroni M., Zachara E., et al. Heart involvement in Anderson-Fabry disease: Italian recommendations for diagnostic,follow-up and therapeutic management. G. Ital. Cardiol. (Rome). 2015;16(11):630–8. Doi: 10.1714/2066.22434.

23. Shi Q., Chen J., Pongmoragot J., et al. Prevalence of Fabry disease in stroke patients--a systematic review and meta-analysis. J. Stroke Cerebrovasc. Dis. 2014;23(5):985–92. Doi: 10.1016/j.jstrokecerebrovasdis.2013.08.010.

24. Kolodny E., Fellgiebel A., Hilz M.J., et al. Cerebrovascular involvement in Fabry disease: current status of knowledge. Stroke. 2015;46(1):302–13. Doi: 10.1161/STROKEAHA.114.006283.

25. Moore D.F., Kaneski C.R., Askari H., et al. The cerebral vasculopathy of Fabry disease. J. Neurol. Sci. 2007;257(1–2):258–63.

26. Muqtadar H., Testai F.D. Single gene disorders associated with stroke: a review and update on treatment options. Curr. Treat. Options Cardiovasc. Med. 2012;14(3):288–97. Doi: 10.1007/s11936-012-0179-4.

27. Germain D.P. Fabry disease. Orphanet. J. Rare Dis. 2010;5:30. Doi: 10.1186/1750-1172-5-30.

28. Ries M., Gupta S., Moore D.F., et al. Pediatric Fabry disease. Pediatrics. 2005;115(3):344–55. Epub 2005 Feb 15. PubMed PMID: 15713906.

29. Desnick R.J., Brady R.O. Fabry disease in childhood. J Pediatr. 2004 May;144(5 Suppl):S20-6. Review. PubMed. PMID:15126980.

30. Hopkin R.J., Bissler J., Banikazemi M., et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr. Res. 2008;64(5):550–555. Doi: 10.1203/PDR.0b013e318183f132. PubMed PMID: 18596579.

31. Biegstraaten M., Linthorst G.E., van Schaik I.N., et al. Fabry disease: a rare cause of neuropathic pain. Curr. Pain Headache Rep. 2013;17(10):365. Doi: 10.1007/s11916-013-0365-4.

32. Bersano A., Lanfranconi S., Valcarenghi C., et al. Neurological features of Fabry disease: clinical, pathophysiological aspects and therapy. Acta. Neurol. Scand. 2012;126(2):77–97. Doi:10.1111/j.1600-0404.2012.01661.x.

33. Bertelsen A.K., Tøndel C., Krohn J., et al. Small fibre neuropathy in Fabry disease. J. Neurol. 2013;260(3):917-9. Doi: 10.1007/s00415-012-6800-3.

34. Dütsch M., Marthol H., Stemper B., et al. Small fiber dysfunction predominates in Fabry neuropathy. J. Clin. Neurophysiol. 2002;19(6):575–586.

35. Üçeyler N., Sommer C. Fabry disease: diagnosis and treatment. Schmerz. 2012;26(5):609–19. Doi: 10.1007/s00482-012-1238-1.

36. MacDermot J., MacDermot K.D. Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options. Eur. J. Pharmacol. 2001;429(1-3):121–125.

37. Biegstraaten M., Binder A., Maag R., et al. The relation between small nerve fibre function, age, disease severity and pain in Fabry disease. Eur. J. Pain. 2011;15(8):822–829. Doi: 10.1016/j.ejpain.2011.01.014.

38. Biegstraaten M., Hollak C.E., Bakkers M., et al.Small fiber neuropathy in Fabry disease. Mol. Genet. Metab. 2012;106(2):135–41. Doi: 10.1016/j.ymgme.2012.03.010.

39. Samuelsson K., Kostulas K., Vrethem M., et al. Idiopathic small fiber neuropathy: phenotype, etiologies, and the search for fabry disease. J. Clin. Neurol. 2014;10(2):108–18. Doi: 10.3988/jcn.2014.10.2.108.

40. Schiffmann R., Scott I.J. Pathophysiology and assessment of neuropathic pain in Fabry disease. Acta Paediatr. 2002;91:48–52.

41. Dütsch M., Hilz M.J. Neurological complications in Fabry disease. Rev. Med. Interne. 2010; 31(Suppl. 2):243–50. Doi: 10.1016/S0248-8663(10)70021-7.

42. Maag R., Binder A., Maier C., et al. Detection of a characteristic painful neuropathy in Fabry disease: a pilot study. Pain Med. 2008;9(8):1217–23. Doi: 10.1111/j.1526-4637.2008.00470.x.

43. Luciano C.A., Russell J.W., Banerjee T.K., et al. Physiological characterization of neuropathy in Fabry’s disease. Muscle Nerve. 2002;26(5):622–629.

44. Ghali J., Murugasu A., Day T., et al. Carpal tunnel syndrome in Fabry disease. JIMD. Rep. 2012;2:17–23. Doi: 10.1007/8904_2011_37.

45. Liguori R., Di Stasi V., Bugiardini E., et al. Small fiber neuropathy in female patients with fabry disease. Muscle Nerve. 2010;41(3):409–12. Doi: 10.1002/mus.21606.

46. Clavelou P., Besson G. Neurological aspects of Fabry disease. Presse Med. 2007;36(Spec. 1):1S65–1568.

47. Domínguez R.O., Michref A., Tanus E., et al. Restless legs syndrome in Fabry disease: clinical feature associated to neuropathic pain is overlooked. Rev. Neurol. 2007;45(8):474–478.

48. Sheth K.J., Bernhard G.C. The arthropathy of Fabry disease. Arthritis Rheum. 1979;22:781–783.

49. Politei J., Remondino G., Heguilen R., et al. When arthralgia is not arthritis. Eur. J. Rheumatol. 2016;3(4):182–4. Doi: 10.5152/eurjrheum.2016.15073. Epub 2016 Apr 5. PubMed PMID: 28149664; PubMed Central PMCID: PMC5283568.

50. Namazova-Baranova L.S., Baranov A.A., Pushkov A.A., et al. Fabry disease in children: a federal screening programme in Russia. Eur. J. Pediatr. 2017 Sep 4. Doi: 10.1007/s00431-017-2992-y

51. Clavelou P., Besson G., Elziere C., et al. Neurological aspects of Fabry’s disease. Rev. Neurol (Paris). 2006;162(5):569–580.

52. Tuttolomondo A., Pecoraro R., Simonetta I., et al. Neurological complications of Anderson-Fabry disease. Curr. Pharm. Des. 2013;19(33):6014–6030.

53. Ginsberg L. Nervous system manifestations of Fabry disease: data from FOS – the Fabry Outcome Survey. In: Mehta A., Beck M., Sunder-Plassmann G., ed. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 23.

54. Cormican M.T., Paschalis T., Viers A., Alleyne C.H. Jr. Unusual case of subarachnoid haemorrhage in patient with Fabry’s disease: case report and literature review. BMJ. Case Rep. 2012;2012. pii: bcr0220125727. Doi: 10.1136/bcr.02.2012.5727.

55. Clavelou P., Besson G. Neurological aspects of Fabry disease. Presse Med. 2007;36(Spec. 1):1S65–1568.

56. Löhle M., Hughes D., Milligan A., et al. Clinical prodromes of neurodegeneration in Anderson-Fabry disease. Neurology. 2015 Apr 7;84(14):1454-64. Doi: 10.1212/WNL.0000000000001450.

57. Müller M.J. Neuropsychiatric and psychosocial aspects of Fabry disease. In: Mehta A., Beck M., Sunder-Plassmann G., ed. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 29.

58. Grewal R.P. Psychiatric disorders in patients with Fabry’s disease. Int. J Psychiatry Med. 1993;23(3):307–312.

59. Müller M.J., Müller K.M., Dascalescu A., et al. Psychiatric and neuropsychological signs and symptoms in patients with fabry disease: literature review. Fortschr. Neurol. Psychiatr. 2005;73(11):687–693.

60. Low M., Nicholls K., Tubridy N., et al. Neurology of Fabry disease. Intern. Med. J. 2007l;37(7):436–447.

61. Bugescu N., Alioto A., Segal S., et al. The neurocognitive impact of Fabry disease on pediatric patients. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2015;168B(3):204-10. Doi: 10.1002/ajmg.b.32297. Epub 2015 Mar 4. PubMed PMID: 25739920.

62. Bugescu N., Naylor P.E., Hudson K., et al. The Psychosocial Impact of Fabry Disease on Pediatric Patients. J. Pediatr. Genet. 2016;5(3):141–9. Doi: 10.1055/s-0036-1584357. Epub 2016 Jun 13. PubMed PMID: 27617155; PubMed Central. PMCID: PMC4999331.

63. Viana-Baptista M. Stroke and Fabry disease. J. Neurol. 2012;259(6):1019–28. Doi: 10.1007/s00415-011-6278-4.

64. Mendióroz M., Fernández-Cadenas I., Montaner J. Neurological manifestations of Fabry disease. Rev. Neurol. 2006;43(12):739–745.

65. Fancellu L., Borsini W., Romani I., et al. Exploratory screening for Fabry’s disease in young adults with cerebrovascular disorders in northern Sardinia. BMC. Neurol. 2015;15:256. Doi: 10.1186/s12883-015-0513-z. PubMed PMID: 26652600; PubMed Central PMCID: PMC4676830.

66. Keshav S. Gastrointestinal manifestations of Fabry disease. In: Mehta A., Beck M., Sunder-Plassmann G., ed. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 28. PubMed PMID: 21290669.

67. Hopkin R.J., Bissler J., Banikazemi M., et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr. Res. 2008;64(5):550–555. Doi: 10.1203/PDR.0b013e318183f132. PubMed PMID: 18596579.

68. Buda P., Wieteska-Klimczak A., Ksiazyk J., et al. Diagnostic problems in a 17-year-old patient with gastrointestinal manifestations of Fabry disease. Med. Wieku. Rozwoj. 2011;15(1):69–72. Polish. PubMed PMID: 21786514.

69. Politei J., Thurberg B.L., Wallace E., et al. Gastrointestinal involvement in Fabry disease. So important, yet often neglected. Clin. Genet. 2016;89(1):5–9. Doi: 10.1111/cge.12673.

70. Buda P., Książyk J., Tylki-Szymanska A. Gastroenterological complications of Anderson-Fabry disease. Curr. Pharm. Des. 2013;19(33):6009–6013.

71. Keshav S. Gastrointestinal manifestations of Fabry disease. In: Mehta A., Beck M., Sunder-Plassmann G., ed. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 28.

72. Keilmann A., Hegemann S., Conti G., Hajioff D. Fabry disease and the ear. In: Mehta A., Beck M., Sunder-Plassmann G., ed. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 25.PubMed PMID: 21290702.

73. Keilmann A. Inner ear function in children with Fabry disease. Acta. Paediatr. Suppl. 2003;92(443):31–32; discussion 27. PubMed PMID: 14989463 .

74. Keilmann A., Hajioff D., Ramaswami U; FOS Investigators. Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey. J. Inherit. Metab. Dis. 2009;32(6):739–744. Doi: 10.1007/s10545-009-1290-x. Epub 2009 Oct 27. PubMed PMID: 19876760.

75. Allen L.E., Cosgrave E.M., Kersey J.P., Ramaswami U. Fabry disease in children: correlation between ocular manifestations, genotype and systemic clinical severity. Br. J. Ophthalmol. 2010;94(12):1602–1605. Doi: 10.1136/bjo.2009.176651. Epub 2010 Jun 24. PubMe. PMID: 20576773.

76. Abe H., Sakai T., Sawaguchi S., et al. Ischemic optic neuropathy in a female carrier with Fabry’s disease. Ophthalmol. 1992;205(2):83–88.

77. Pitz S., Grube-Einwald K., Renieri G., Reinke J. Subclinical optic neuropathy in Fabry disease. Ophthalmic. Genet. 2009;30(4):165–171. Doi:10.3109/13816810903148004.

78. Kumagai K., Mitamura Y., Mizunoya S., et al. A case of anterior ischemic optic neuropathy associated with Fabry’s disease. Jpn. J. Ophthalmol. 2008;52(5):421–423. Doi: 10.1007/s10384-008-0572-4.

79. Sivley M.D. Fabry disease: a review of ophthalmic and systemic manifestations. Optom. Vis. Sci. 2013;90(2):e63–78. Doi: 10.1097/OPX.0b013e31827ec7eb.

80. Sodi A., Ioannidis A., Pitz S. Ophthalmological manifestations of Fabry disease. In: Mehta A., Beck M., Sunder-Plassmann G., ed. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 26.

81. Kalkum G., Pitz S., Karabul N., et al. Paediatric Fabry disease: prognostic significance of ocular changes for disease severity. BMC. Ophthalmol. 2016;16(1):202. PubMed PMID: 27852300; PubMed Central PMCID: PMC5112699 .

82. Giuseppe P., Daniele R., Rita B.M. Cutaneous complications of Anderson-Fabry disease. Curr. Pharm. Des. 2013;19(33):6031–6036.

83. Lidove O., Jaussaud R., Aractingi S. Dermatological and soft-tissue manifestations of Fabry disease: characteristics and response to enzyme replacement therapy. In: Mehta A., Beck M., Sunder-Plassmann G., ed. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 24.

84. Basic-Jukic N., Kes P., Coric M., Basic-Kes V. Renal complications of Fabry disease. Curr. Pharm. Des. 2013;19(33):6046–6050. Review. PubMed PMID: 23448456.

85. Tondel C., Bostad L., Hirth A., Svarstad E. Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am. J. Kidney Dis. 2008;51(5):767–776. Doi: 10.1053/j.ajkd.2007.12.032. Epub 2008 Mar 20. Erratum in: Am. J. Kidney Dis. 2009 Mar;53(3):567. PubMed PMID: 18436087.

86. Tondel C., Bostad L., Laegreid L.M., et al. Prominence of glomerular and vascular changes in renal biopsies in children and adolescents with Fabry disease and microalbuminuria. Clin. Ther. 2008;30(Suppl. B):42. PubMed PMID: 18395135.

87. Wijburg F.A., Bénichou B., Bichet D.G., et al. Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial. PLoS One. 2015;10(5):e0124987. Doi: 10.1371/journal.pone.0124987. ECollection 2015. PubMed PMID: 25955246; PubMed Central PMCID: PMC4425695.

88. Tondel C., Kanai T., Larsen K.K., et al. Foot process effacement is an early marker of nephropathy in young classic Fabry patients without albuminuria. Nephron. 2015;129(1):16–21. Doi: 10.1159/000369309. Epub 2014 Dec 17. PubMed PMID: 25531941.

89. Cybulla M., Kurschat C., West M., et al.Kidney transplantation and enzyme replacement therapy in patients with Fabry disease. J. Nephrol. 2013;26(4):645–651. Doi: 10.5301/jn.5000214. Epub 2012 Sep 19. Review. PubMed PMID: 23023720.

90. Manwaring V., Heywood W.E., Clayton R., et al. The identification of new biomarkers for identifying and monitoring kidney disease and their translation into a rapid mass spectrometry-based test: evidence of presymptomatic kidney disease in pediatric Fabry and type-I diabetic patients. J. Proteome. Res. 2013;12(5):2013–2021. Doi: 10.1021/pr301200e. Epub 2013 Apr 2. PubMed PMID: 23464927.

91. Auray-Blais C., Ntwari A., Clarke J.T., et al. How well does urinary Lyso-Gb3 function as a biomarker in Fabry disease? Clin. Chim. Acta. 2010;411(23-24):1906-1914. Doi: 10.1016/j.cca.2010.07.038. Epub 2010 Aug 14. PubMed PMID: 20716442.

92. Auray-Blais C., Cyr D., Ntwari A., et al. Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. Mol. Genet. Metab. 2008;93(3):331–340. Epub 2007 Nov 26. PubMed PMID: 18023222.

93. Najafian B., Mauer M., Hopkin R.J., Svarstad E. Renal complications of Fabry disease in children. Pediatr. Nephrol. 2013;28(5):679–687. Doi: 10.1007/s00467-012-2222-9. Epub 2012 Aug 17. Review. PubMed PMID: 22898981; PubMed Central PMCID: PMC3811930.

94. Ramaswami U., Najafian B., Schieppati A., et al. Assessment of renal pathology and dysfunction in children with Fabry disease. Clin. J. Am. Soc. Nephrol. 2010;5(2):365–370. Doi: 10.2215/CJN.08091109. Epub 2010 Jan 7. Review. PubMed PMID: 20056758; PubMed Central PMCID: PMC4909119.

95. Tondel C., Ramaswami U., Aakre K.M., et al. Monitoring renal function in children with Fabry disease: comparisons of measured and creatinine-based estimated glomerular filtration rate. Nephrol. Dial. Transplant. 2010;25(5):1507–1513. Doi: 10.1093/ndt/gfp658. Epub 2009 Dec 27. PubMed PMID: 20038520.

96. Seydelmann N., Wanner C., Störk S., et al. Fabry disease and the heart. Best Pract. Res. Clin. Endocrinol. Metab. 2015;29(2):195-204. Doi: 10.1016/j.beem.2014.10.003. Epub 2014 Oct 16. Review. PubMed PMID: 25987173.

97. Weidemann F., Ertl G., Wanner C., Krämer J. The Fabry cardiomyopathy – diagnostic approach and current treatment. Curr. Pharm. Des. 2015;21(4):473–478. Review. PubMed PMID: 25483948.

98. Putko B.N., Wen K., Thompson R.B., et al. Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment. Heart Fail Rev. 2015;20(2):179–191. Doi: 10.1007/s10741-014-9452-9. Review. PubMed PMID: 25030479.

99. Pieruzzi F., Pieroni M., Zachara E., et al

100. Acharya D., Doppalapudi H., Tallaj J.A. Arrhythmias in Fabry cardiomyopathy. Card. Electrophysiol. Clin. 2015;7(2):283–291. Doi: 10.1016/j.ccep.2015.03.014. Epub 2015 Apr 1. Review. PubMed PMID: 26002392.

101. Acharya D, Robertson P., Kay G.N., et al. Arrhythmias in Fabry cardiomyopathy. Clin. Cardiol. 2012;35(12):738–740. Doi: 10.1002/clc.22047. Epub 2012 Aug 9. PubMed PMID: 22886820.

102. Kampmann C., Wiethoff C.M., Whybra C., et al. Cardiac manifestations of Anderson-Fabry disease in children and adolescents. Acta Paediatr. 2008;97(4):463–469. Doi: 10.1111/j.1651-2227.2008.00700.x. PubMed PMID: 18363956.

103. Biegstraaten M., van Schaik I.N., Wieling W., et al. Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests. BMC. Neurol. 2010;10:38. Doi: 10.1186/1471-2377-10-38.

104. Smid B.E., van der Tol L., Cecchi F., et al. Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance. Int. J. Cardiol. 2014;177(2):400–408. Doi: 10.1016/j.ijcard.2014.09.001. Epub 2014 Sep 20. Review. PubMed PMID: 25442977.

105. Franzen D., Krayenbuehl P.A., Lidove O., et al. Pulmonary involvement in Fabry disease: overview and perspectives. Eur. J. Intern. Med. 2013;24(8):707–713. Doi: 10.1016/j.ejim.2013.05.003.

106. Svensson C.K., Feldt-Rasmussen U., Backer V. Fabry disease, respiratory symptoms,and airway limitation – a systematic review. Eur. Clin. Respir. J. 2015;2. Doi: 10.3402/ecrj.v2.26721.

107. Franzen D., Krayenbuehl P.A., Lidove O., et al. Pulmonary] involvement in Fabry disease: overview and perspectives. Eur. J. Intern. Med. 2013;24(8):707–713. Doi: 10.1016/j.ejim.2013.05.003. Epub 2013 May 30. Review. PubMed PMID: 23726861.

108. Tuttolomondo A., Pecoraro R., Simonetta I., et al. Anderson-Fabry disease: a multiorgan disease. Curr. Pharm. Des. 2013;19(33):5974–5996.

109. Shribman S.E., Shah A.R., Werring D.J., Cockerell O.C. Fabry disease mimicking multiple sclerosis: Lessons from two case reports. Mult. Scler. Relat. Disord. 2015;4(2):170–175. Doi: 10.1016/j.msard.2015.01.001.

110. Hoffmann B., Mayatepek E. Fabry disease-often seen, rarely diagnosed. Dtsch. Arztebl. Int. 2009;106(26):440–7. Doi: 10.3238/arztebl.2009.0440.

111. Carubbi F., Bonilauri L. Fabry disease: raising awareness of the disease among physicians. Intern. Emerg. Med. 2012;7(Suppl. 3):227–231. Doi:10.1007/s11739-012-0821-x.

112. Thomas A.S., Mehta A.B. Difficulties and barriers in diagnosing Fabry disease: what can be learnt from the literature? Expert. Opin. Med. Diagn. 2013;7(6):589–599. Doi: 10.1517/17530059.2013.846322.

113. Ellaway C. Paediatric Fabry disease. Transl. Pediatr. 2016;5(1):37–42. Doi: 10.3978/j.issn.2224-4336.2015.12.02.

114. Winchester B., Young E. Biochemical and genetic diagnosis of Fabry disease. In: Mehta A., Beck M., Sunder-Plassmann G., ed. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 18.

115. Matern D., Gavrilov D., Oglesbee D., et al. Newborn screening for Lysosomal storage disorders. Semin. Perinatol. 2015;39(3):206–216. Doi: 10.1053/j.semperi.2015.03.005. Epub 2015 Apr 16.

116. Nakamura K., Hattori K., Endo F. Newborn screening for Lysosomal storage disorders. Am. J. Med. Genet. C Semin. Med. Genet. 2011;157C(1):63–71. Doi: 10.1002/ajmg.c.30291.

117. Germain D.P. Fabry disease. Orphanet. J. Rare Dis. 2010;5:30. Doi: 10.1186/1750-1172-5-30.

118. Schiffmann R., Scott L.J. Pathophysiology and assessment of neuropathic pain in Fabry disease. Acta Paediatr. Suppl. 2002;91(439):48–52.

119. Cleeland C.S. Pain assessment: the advantages of using pain scales in Lysosomal storage diseases. Acta Paediatr. Suppl. 2002;91(439):43–47.

120. Burlina A.P., Sims K.B., Politei J.M., et al. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. BMC Neurol. 2011;11:61. Doi: 10.1186/1471-2377-11-61.

121. Whybra C., Bähner F., Baron K. Measurement of disease severity and progression in Fabry disease. In: Mehta A., Beck M., Sunder-Plassmann G., ed. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 32.

122. Arends M., Hollak C.E., Biegstraaten M. Quality of life in patients with Fabry disease: a systematic review of the literature. Orphanet. J. Rare Dis. 2015;10:77. Doi: 10.1186/s13023-015-0296-8.

123. Fellgiebel A., Albrecht J., Dellani P.R., et al. Quantification of brain tissue alterations in Fabry disease using diffusion-tensor imaging. Acta Paediatr. 2007;96(455):33–36.

124. Low M., Nicholls K., Tubridy N., et al. Neurology of Fabry disease. Intern. Med. J. 2007;37(7):436–447.

125. van der Tol L., Svarstad E., Ortiz A., et al. Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis. Mol. Genet. Metab. 2015;114(2):242–247. Doi: 10.1016/j.ymgme.2014.08.007.

126. Smid B.E., van der Tol L., Cecchi F., et al. Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance. Int. J. Cardiol. 2014;177(2):400–408. Doi: 10.1016/j.ijcard.2014.09.001.

127. Najafian B., Mauer M., Hopkin R.J., Svarstad E. Renal complications of Fabry disease in children. Pediatr. Nephrol. 2013;28(5):679–687. Doi: 10.1007/s00467-012-2222-9.

128. Cybulla M., Kurschat C., West M., et al. Kidney transplantation and enzyme replacement therapy in patientswith Fabry disease. J. Nephrol. 2013;26(4):645–651. Doi: 10.5301/jn.5000214. Epub 2012 Sep 19.

129. Politei J.M. Can we use statins to prevent stroke in Fabry disease? J. Inherit. Metab. Dis. 2009;32(4):481–487. Doi: 10.1007/s10545-009-1156-2.

130. Schuller Y., Linthorst G.E., Hollak C.E., et al. Pain management strategies for neuropathic pain in Fabry disease – a systematic review. BMC. Neurol. 2016;16(1):25. Doi: 10.1186/s12883-016-0549-8.

131. Thomas A.S., Hughes D.A. Fabry disease. Pediatr. Endocrinol. Rev. 2014;12(Suppl. 1):88–101.

132. Burlina A.P., Sims K.B., Politei J.M., et al. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. BMC. Neurol. 2011;11:61. Doi: 10.1186/1471-2377-11-61.

133. Alegra T., Vairo F., de Souza M.V., et al. Enzyme replacement therapy for Fabry disease: A systematic review and meta-analysis. Genet. Mol. Biol. 2012;35(Suppl. 4):947–954.

134. Schiffmann R., Moore D.F. Neurological effects of enzyme replacement therapy in Fabry disease. In: Mehta A., Beck M., Sunder-Plassmann G., editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 39.

135. Sommer C., Uçeyler N., Duning T., et al. Pain therapy for Fabry’s disease. Internist (Berl). 2013;54(1):121–122, 124–130. Doi: 10.1007/s00108-012-3204-5.

136. Dütsch M., Hilz M.J. Neurological complications in Fabry disease. Rev. Med. Interne. 2010;31(Suppl. 2):S243–50. Doi: 10.1016/S0248-8663(10)70021-7.

137. Schiffmann R., Floeter M.K., Dambrosia J.M., et al. Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve. 2003;28(6):703–710.

138. Schiffmann R. Neuropathy and Fabry disease: pathogenesis and enzyme replacement therapy. Acta Neurol. Belg. 2006;106(2):61–65.

139. Hilz M.J., Brys M., Marthol H., et al. Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy. Neurology. 2004;62(7):1066–1072.

140. Lidove O., Jaussaud R., Aractingi S. Dermatological and soft-tissue manifestations of Fabry disease: characteristics and response to enzyme replacement therapy. In: Mehta A., Beck M., Sunder-Plassmann G., ed. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 24.

141. Domínguez R.O., Michref A., Tanus E., Amartino H. Restless legs syndrome in Fabry disease: clinical feature associated to neuropathic pain is overlooked. Rev. Neurol. 2007;45(8):474–478.

142. Toyooka K. Fabry disease. Handb. Clin. Neurol. 2013;115:629–42. Doi:10.1016/B978-0-444-52902-2.00037-0.

143. Lidove O., Barbey F., Joly D. Treatment of Fabry disease: Successes, failures, and expectations. Nephrol. Ther. 2016. pii: S1769-7255(16)00034-1. Doi: 10.1016/j.nephro.2016.02.003.

144. Keilmann A., Hegemann S., Conti G., Hajioff D. Fabry disease and the ear. In: Mehta A., Beck M., Sunder-Plassmann G., ed. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 25.

145. Acharya D., Doppalapudi H., Tallaj J.A. Arrhythmias in Fabry cardiomyopathy. Card. Electrophysiol. Clin. 2015;7(2):283–291. Doi: 10.1016/j.ccep.2015.03.014. Epub 2015 Apr 1.

146. Seydelmann N., Wanner C., Störk S., et al. Fabry disease and the heart. Best Pract. Res. Clin. Endocrinol. Metab. 2015;29(2):195–204. Doi: 10.1016/j.beem.2014.10.003. Epub 2014 Oct 16.

147. Rombach S.M., Smid B.E., Linthorst G.E., et al. Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages. J. Inherit. Metab. Dis. 2014;37(3):341–352. Doi: 10.1007/s10545-014-9677-8.

148. Lidove O., Barbey F., Joly D. Treatment of Fabry disease: Successes, failures, and expectations. Nephrol. Ther. 2016 Mar 8. pii: S1769-7255(16)00034-1. Doi: 10.1016/j.nephro.2016.02.003.

149. Basic-Jukic N., Kes P., Coric M., Basic-Kes V. Renal complications of Fabry disease. Curr. Pharm. Des. 2013;19(33):6046–6050.

150. Waldek S., Feriozzi S. Fabry nephropathy: a review – how can we optimize the management of Fabry nephropathy? BMC. Nephrol. 2014;15:72. Doi: 10.1186/1471-2369-15-72.

151. Tondel C., Bostad L., Larsen K.K., et al. Agalsidase benefits renal histology in young patients with Fabry disease. J. Am. Soc. Nephrol. 2013;24(1):137–148. Doi: 10.1681/ASN.2012030316. PubMed PMID: 23274955; PubMed Central PMCID: PMC3537211.

152. Üçeyler N., He L., Schönfeld D., et al. Small fibers in Fabry disease: baseline and follow-up data under enzyme replacement therapy. J. Peripher. Nerv. Syst. 2011;16(4):304–314. Doi: 10.1111/j.1529-8027.2011.00365.x.

153. Cybulla M., Kurschat C., West M., et al. Kidney transplantation and enzyme replacement therapy in patients with Fabry disease. J. Nephrol. 2013;26(4):645–651. Doi: 10.5301/jn.5000214. Epub 2012 Sep 19. Review. PubMed PMID: 23023720.

154. Politei J., Thurberg B.L., Wallace E., et al. Gastrointestinal involvement in Fabry disease. So important, yet often neglected. Clin. Genet. 2016;89(1):5–9. Doi: 10.1111/cge.12673.

155. Keshav S. Gastrointestinal manifestations of Fabry disease. In: Mehta A., Beck M., Sunder-Plassmann G., ed. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006. Chapter 28.

156. El-Abassi R., Singhal D., England J.D. Fabry’s disease. J. Neurol. Sci. 2014;344(1–2):5–19. Doi: 10.1016/j.jns.2014.06.029. Epub 2014 Jun 21.

157. Weidemann F., Sanchez-Niño M.D., Politei J., et al. Fibrosis: a key feature of Fabry disease with potential therapeutic implications. Orphanet. J. Rare Dis. 2013;8:116. Doi: 10.1186/1750-1172-8-116.

158. Pieruzzi F., Salerno F., Di Giacomo A., et al. Clinical and histological findings in Fabry nephropathy. G. Ital. Nefrol. 2013;30(6). pii: gin/30.6.6.

159. Moller A.T., Jensen T.S. Neurological manifestations in Fabry’s disease. Nat. Clin. Pract. Neurol. 200;3(2):95–106.

160. Bugescu N., Alioto A., Segal S., et al. The neurocognitive impact of Fabry disease on pediatric patients. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2015;168B(3):204–210. Doi: 10.1002/ajmg.b.32297. Epub 2015 Mar 4. PubMed PMID: 25739920.

161. Ramaswami U., Parini R., Pintos-Morell G., et al. FOS Investigators. Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey. Clin. Genet. 2012;81(5):485–490. Doi: 10.1111/j.1399-0004.2011.01671.x. Epub 2011 Apr 25. PubMed PMID: 21457233.

162. Martin-Suárez I., Suárez-Marrero C. Beneficial effects of long-term enzyme replacement therapy in a child with Fabry disease. Int. J. Clin. Pract. 2010;64(7):995. Doi: 10.1111/j.1742-1241.2009.02323.x. PubMed PMID: 20584233.

163. El Dib R.P., Nascimento P., Pastores G.M. Enzyme replacement therapy for Anderson-Fabry disease. Cochrane Database Syst. Rev. 2013;2:CD006663. Doi: 10.1002/14651858.CD006663.pub3.

164. Pisani A., Visciano B., Roux G.D., et al. Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature. Mol. Genet. Metab. 2012;107(3):267–275. Doi: 10.1016/j.ymgme.2012.08.003. Epub 2012 Aug 11.

165. Riccio E., Capuano I., Visciano B., et al. Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature. G. Ital. Nefrol. 2013;30(5). pii: gin/30.5.5.

166. Ghali J., Nicholls K., Denaro C., et al. Australian State Fabry Disease Treatment Centres. Effect of reduced agalsidase Beta dosage in fabry patients: the Australian experience. JIMD. Rep. 2012;3:33–43. Doi: 10.1007/8904_2011_44.

167. Deegan P.B. Fabry disease, enzyme replacement therapy and the significance of antibody responses. J. Inherit. Metab. Dis. 2012;35(2):227–243. Doi: 10.1007/s10545-011-9400-y.

168. Milligan A., Hughes D., Goodwin S., et al. Intravenous enzyme replacement therapy: better in home or hospital? Br. J. Nurs. 2006;15(6):330–333. PubMed PMID: 16628169.

169. Mauhin W., Lidove O., Masat E., et al. Innate and Adaptive Immune Response in Fabry Disease. JIMD. Rep. 2015;22:1–10.Doi:10.1007/8904_2014_371.

170. Thomas A.S., Hughes D.A. Fabry disease. Pediatr. Endocrinol. Rev. 2014;12(Suppl. 1):88–101.

171. Politei J.M., Pagano M.A. Peripheral neuropathy in Anderson-Fabry disease: its physiology, evaluation and treatment. Rev. Neurol. 2004;38(10):979–983.

172. MacDermot J., MacDermot K.D. Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options. Eur. J. Pharmacol. 2001;429(1–3):121–125.

173. Rozenfeld P., Neumann P.M. Treatment of fabry disease: current and emerging strategies. Curr. Pharm. Biotechnol. 2011;12(6):916–922. Doi: 1389-2010/11 $58.00+.00.

174. Ruiz de Garibay A.P., Solinís M.A., Rodríguez-Gascón A. Gene therapy for fabry disease: a review of the literature. BioDrugs. 2013;27(3):237–246. Doi: 10.1007/s40259-013-0032-7.

175. Sánchez-Fernández E.M., García Fernández J.M., Mellet C.O. Glycomimetic-based pharmacological chaperones for Lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases. Chem. Commun. (Camb). 2016;52(32):5497–5515. Doi: 10.1039/c6cc01564f.

176. Suzuki Y. Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease. Brain Dev. 2013;35(6):515–523. Doi: 10.1016/j.braindev.2012.12.002.

177. Valayannopoulos V. Enzyme replacement therapy and substrate reduction therapy in Lysosomal storage disorders with expression. Handb. Clin. Neurol. 2013;113:1851–1857. Doi: 10.1016/B978-0-444-59565-2.00055-1.

178. Kusano E, Saito O, Akimoto T, Asano Y. Fabry disease: experience of screening dialysis patients for Fabry disease. Clin Exp Nephrol. 2014 Apr;18(2):269–273. Doi: 10.1007/s10157-013-0897-2.

179. Motabar O., Sidransky E., Goldin E., Zheng W. Fabry disease – current treatment and new drug development. Curr. Chem. Genomics. 2010;4:50–56. Doi: 10.2174/1875397301004010050.

180. Laney D.A., Bennett R.L., Clarke V., et al. Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J. Genet. Couns. 2013;22(5):555–564. Doi: 10.1007/s10897-013-9613-3.


Об авторах / Для корреспонденции


Информация об авторах:
Фирсов К.В. – к.п.н., врач-невролог ГБУЗ МО МОНИКИ им. М.Ф. Владимирского; Москва, Россия
Котов А.С. – д.м.н., профессор кафедры неврологии ФУВ, заведующий детским неврологическим отделением по разделу «Наука» ГБУЗ МО МОНИКИ
им. М.Ф. Владимирского; Москва, Россия. E-mail: alex-013@yandex.ru


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