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Русский журнал детской неврологии

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Неврологические проявления болезни Фабри у детей и подростков

https://doi.org/10.17650/2073-8803-2017-12-3-51-57

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Аннотация

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 гладкой мускулатуры сосудов) с поражением различных органов, включая центральную нервную систему. Клинические проявления заболевания начинаются в детстве, но у многих пациентов оно диагностируется только во взрослом состоянии. Раннее распознавание симптомов, определение уровня активности ферментов, концентрации Gb3 в крови, моче и биоптатах кожи, генетическое тестирование (ген GLA) дают возможность осуществлять раннюю диагностику и ферментзаместительную терапию, которая позволяет стабилизировать или редуцировать прогрессирование болезни. Благодаря раннему началу терапии возможно предотвратить развитие осложнений.

Об авторах

К. В. Фирсов
ГБУЗ МО «Московский областной научно-исследовательский клинический институт им. М.Ф. Владимирского»
Россия
129110 Москва, ул. Щепкина, 61/2


А. С. Котов
ГБУЗ МО «Московский областной научно-исследовательский клинический институт им. М.Ф. Владимирского»
Россия
129110 Москва, ул. Щепкина, 61/2


Список литературы

1. Фирсов К.В., Котов А.С. Неврологические проявления при болезни Фабри. Журнал неврологии и психиатрии им. С.С. Корсакова 2016;116(9):98–105. [Firsov K.V., Kotov A.S. Neurological manifestations in the case of Fabry disease. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova = S.S. Korsakov Journal of Neurology and Psychiatry 2004;104(6):54–8. (In Russ.)].

2. 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):1602–5. DOI: 10.1136/bjo.2009.176651. PMID: 20576773.

3. 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. PMID: 22428782.

4. 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):822–9. DOI: 10.1016/j. ejpain.2011.01.014. PMID: 21334933.

5. Biegstraaten M., Linthorst G.E., van Schaik I.N., Hollak C.E. Fabry disease: a rare cause of neuropathic pain. Curr Pain Headache Rep 2013;17(10):365. DOI: 10.1007/s11916-013-0365-4. PMID: 23996721.

6. Bolsover F.E., Murphy E., Cipolotti L. et al. Cognitive dysfunction and depression in Fabry disease: a systematic review. J Inherit Metab Dis 2014;37(2):177–87. DOI: 10.1007/s10545-013-9643-x. PMID: 23949010.

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

8. 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. PMID: 25739920.

9. 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. PMID: 27617155.

10. 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. PMID: 21619592.

11. Carubbi F., Bonilauri L. Fabry disease: raising awareness of the disease among physicians. Intern Emerg Med 2012;7 (suppl 3):S227–31. DOI: 10.1007/s11739-012-0821-x. PMID: 23073862.

12. Clavelou P., Besson G., Elziere C. et al. Neurological aspects of Fabry disease. Rev Neurol (Paris) 2006;162(5):569–80. PMID: 16710123.

13. Clavelou P., Besson G. Neurological aspects of Fabry disease. Presse Med 2007;36(spec No 1):1S65–8. PMID: 17546771.

14. Cybulla M., Kurschat C., West M. et al. Kidney transplantation and enzyme replacement therapy in patients with Fabry disease. J Nephrol 2013;26(4):645–51. DOI: 10.5301/ jn.5000214. PMID: 23023720.

15. 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):474–8. PMID: 17948213.

16. 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. PMID: 21211673.

17. El Dib R.P., Nascimento P., Pastores G.M. Enzyme replacement therapy for Anderson–Fabry disease. Cochrane Database Syst Rev 2016;7:CD006663. PMID: 23450571.

18. 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.

19. Ellaway C. Paediatric Fabry disease. Transl Pediatr 2016;5(1):37–42. DOI: 10.3978/j. issn.2224-4336.2015.12.02. PMID: 26835405.

20. 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. PMID: 26652600.

21. Fellgiebel A., Albrecht J., Dellani P.R. et al. Quantification of brain tissue alterations in Fabry disea se using diffusion-tensor imaging. Acta Paediatr 2007;96(455): 33–6. PMID: 17391437.

22. Ferraz M.J., Kallemeijn W.W., Mirzaian M. et al. Gaucher disease and Fabry disease: new markers and insights in pathophysiology for two distinct gly cosphingolipidoses. Biochim Biophys Acta 2014;1841(5): 811–25. DOI: 10.1016/j. bbalip.2013.11.004. PMID: 24239767.

23. Fuller M., Meikle P.J., Hopwood J.J. Epidemiology of lysosomal storage diseases: an overview. In: Fabry disease: perspec tives from 5 years of FOS. Eds.: A. Mehta, M. Beck, G. Sunder-Plassmann. Oxford: Oxford PharmaGenesis, 2006. Pp. 9–20.

24. Germain D.P. Fabry disease. Orphanet J Rare Dis 2010;5:30. DOI: 10.1186/1750-1172-5-30. PMID: 21092187.

25. Ghali J., Murugasu A., Day T., Nicholls K. Carpal tunnel syndrome in Fabry disease. JIMD Rep 2012;2:17–23. DOI: 10.1007/8904_2011_37. PMID: 23430848.

26. Ghali J., Nicholls K., Denaro C. et al. Effect of reduced agalsidase beta dosage in Fabry patients: the Australian experience. JIMD Rep 2012;3:33–43. DOI: 10.1007/8904_2011_44.

27. Ginsberg L. Nervous system manifestations of Fabry disease: data from FOS – the Fa bry Outcome Survey. In: Fabry disease: perspectives from 5 years of FOS. Eds.: A. Mehta, M. Beck, G. SunderPlassmann. Oxford: Oxford PharmaGenesis, 2006. Pp. 227–232.

28. Giuseppe P., Daniele R., Rita B.M. Cutaneous complicatio ns of Anderson–Fabry disease. Curr Pharm Des 2013;19(33):6031–6. PMID: 23448454.

29. Goker-Alpan O., Longo N., McDonald M. et al. An open-label clinical trial of agalsidase alfa enzyme replacement therapy in chi ldren with Fabry disease who are naïve to enzyme replacement therapy. Drug Des Devel Ther 2016;10:1771–81. DOI: 10.2147/ DDDT.S102761. PMID: 27307708.

30. Hilz M.J., Brys M., Marthol H. et a l. Enzyme replacement therapy improves function of C-, Adelta-and Abeta-nerve fibers in Fabry neuropathy. Neurology 200413;62(7):1066–72. PMID: 15079003.

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

32. Hoffmann B., Mayatepek E. Fabry disease – often seen, rarely diagnosed. Dtsch Arztebl Int 2009;106(26):440–7. DOI: 10.3238/arztebl.2009.0440. PMID: 19623315.

33. Hopki n R.J., Bissler J., Banikazemi M. et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res 2 008;64(5):550–5. DOI: 10.1203/PDR.0b013e318183f132. PMID: 18596579.

34. Hopkin R.J., Jefferies J.L., Laney D.A. et al. Th e 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. PMID: 26546059.

35. Hornbostel H., Sc riba K. Excision of skin in diagnosis of Fabry’s angiokeratoma with cardio-vasorenal syndrome as phosphatide storage disease. Klin Wochenschr 1953;31(3–4):68–9. PMID: 13062573.

36. Insert to use for Fabraz im № 003334/09, dated 30.04.2009.

37. Insert to use for Replagal № 00551/09, dated 29.01.2009.

38. 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. PMID: 27852300.

39. Kampmann C., Wiethoff C.M., Whybra C. et al. Cardiac m anifestations of Anderson– Fabry disease in children and adolescents. Acta Paediatr 2008;97(4):463–9. DOI: 10.1111/j.1651-2227.2008.00700.x. PMID: 18363956.

40. Kampmann C., Perri n A., Beck M. Effectiveness of agals idase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years’ treatment. Orphanet J Rare Dis. 2015;10:125. DOI: 10.1186/s13023-015-0338-2.

41. Keilmann A., Hajioff D., Ramaswami U. et al. Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey. J Inherit Metab Dis 2009;32(6): 739 –44. DOI: 10.1007/s10545-009-1290-x. PMID: 19876760.

42. Keilmann A., Hegemann S., Conti G., Hajioff D. Fabry disease and the ear. In: Fabry disease: perspectives from 5 years of FOS. Eds.: A. M ehta, M. Beck, G. Sunder-Plassmann. Oxford: Oxford PharmaGenesis, 2006. Pp. 241–247.

43. Keilmann A. Inner ear function in children with Fabry disease. Acta Paediatr Suppl 2003;92(443):31–2; discussion 27. PMID: 14989463.

44. Kusano E., Saito O., Akimoto T., Asano Y. Fa bry disease: experience of screening dialysis patients for Fabry disease. Clin Exp Nephrol 2014;18(2):269–73. DOI: 10.1007/ s10157-013-0897-2. PMID: 24189976.

45. Laney D.A., Bennett R.L., Clarke V. et al. Fabry disease practice guidelines: reco mmendations of the National Society of Genetic Counselors. J Genet Couns 2013;22(5):555–64. DOI: 10.1007 / s10897-013-9613-3. PMID: 23860966.

46. Lidove O., Jaussaud R., Aractingi S. Dermatological and soft-tissue manifestations of Fabry disease: characteristic s and response to enzyme replacement therapy. In: Fabry disease: perspectives from 5 years of FOS. Eds.: A. Mehta, M. Beck, G. Sunder-Plassmann. Oxford: Oxford PharmaGenesis; 200 6. Pp. 233–240.

47. 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. PMID: 20120004.

48. Low M., Nicholls K., Tubridy N. et al. Neu rology of Fabry disease. Intern Med J 2007;37(7):436–47. PMID: 17547722.

49. Luciano C.A., Russell J.W., Banerjee T.K. et al. Physiological characterization of neuropathy in Fabry’s disease. Muscle Nerve 2002;26(5):622–9. PMID: 12402283.

50. MacDermot J., MacDermot K.D. Neuropathic pain in Anderson–Fabry disease: pathology and therapeutic options. Eur J Pharmacol 2001;429(1–3):121–5. PMID: 11698033.

51. Matern D., Gavrilov D., Oglesbee D. et al. Newborn screening for lysosomal storage disorders. Semin Perinatol 2015;39(3):206–16. DOI: 10.1053/j.semperi.2015.03.005. PMID: 25891428.

52. Mauhin W., Lidove O., Masat E. et al. Innate a nd adaptive immune response in Fabry disease. JIMD Rep 2015;22:1–10. DOI: 10.1007/8904_2014_371. PMID: 25690728.

53. Moller A.T ., Jensen T.S. Neurological manifestations in Fabry’s disease. Nat Clin Pract Neurol 2007;3(2):95–106. PMID: 17279083.

54. Motabar O., Sidransky E., Goldin E., Z heng W. Fabry disease – current treatment and new drug development. Curr Chem Genomics 201023;4:50–6. DOI: 10.2174/1875397301004010050. PMID: 21127742.

55. Müller M.J. Neuropsychiatric and psychosocial aspects of Fa bry disease. In: Fabry disease: perspectives from 5 years of FOS. Eds.: A. Mehta, M. Beck, G. SunderPlassmann. Oxford: Oxford PharmaGenesis, 2006. Pp. 281–294.

56. Pintos Morell G. Fabry’s disease: diagnosis in the pediatric age grou p. An Esp Pediatr 2002;57(1):45–50. PMID: 12139892.

57. 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):267–75. DOI: 10.1016/j.ymgme. 2012.08.003.

58. 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. PMID: 26333625.

59. Ramaswami U., Whybra C., P arini R. et al. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr 2006;95(1):86–92. PMID: 16498740.

60. Riccio E., Capuano I., Visciano B. et al. Enzyme replaceme nt therapy in patients with Fabry disease: state of the art and review of the literature. G Ital Nefrol 2013;30(5):gin/30.5.5. PMID: 24402625.

61. Ries M., Ramaswami U., Parini R. et al. The early clinical phenotype o f Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr 2003;162(11):767–72. PMID: 14505049.

62. Rombach S.M., Smid B.E., Linthorst G.E. et al. Natural course of Fabry disease and the effectiven ess of enzyme replacement therapy: a systematic review and metaanalysis: effectiveness of ERT in different disease stages. J Inherit Metab Dis 2014;37(3):341–52. DOI: 10.1007/ s10545-014-9677-8. PMID: 24492980.

63. Rozenfeld P. , Neumann P.M. Treatment of Fabry disease: current and emerging strategies. Curr Pharm Biotechnol 2011;12(6):916–22. DOI: 1389-2010/11 . PMID: 21235448.

64. 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/ j cn.2014.10.2.108. PMID: 24829596.

65. 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. PMID: 26329150.

66. Schiffm ann R., Martin R.A., Reimschisel T. et al. Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease. J Pediatr 2010;156(5):832–7. DOI: 10.1016/j.jpeds.2009.11.007. PMID: 20097359.

67. Schiffmann R., Moore D.F. Neurological manifestations of Fabry disease. In: Fabry disease: perspectiv es from 5 years of FOS. Eds.: A. Mehta, M. Beck, G. SunderPlassmann. Oxford: Oxford PharmaGenesis; 2006. Pp. 215–225.

68. Schiffmann R., Pastores G.M., Lien Y.H. et al. Agalsidase alfa in pediatric patients with Fabry disease: a 6.5-year open-label follow-up study. Orphanet J Rare Dis 2014;9:169. DO I: 10.1186/s13023-014-0169-6. PMID: 25425121.

69. Schiffmann R., Scott L.J. Pathophysiology and assessment of neuropathic pain in Fabry disease. Acta Paediatr Suppl 20 02;91(439):48–52. PMID: 12572843.

70. Sheth K.J., Bernhard G.C. The arthropathy of Fabry disease. Arthritis Rheum 1979;22(7):781–3. PMID: 110339.

71. Shribman S.E., Shah A. R., Werring D.J., Cockerell O.C. Fabry disease mimicking multiple sclerosis: lessons from 2 case reports. Mult Scler Relat Disord 2015;4(2):170–5. DOI: 10.1016/j. msard.2015.01.001. P MID: 25787193.

72. Sivley M.D. Fabry disease: a review of ophthalmic and systemic manifestations. Optom Vis Sci;90(2):e63–78. DOI: 10.1097/OPX.0b013e31827ec7eb. PMID : 23334311.

73. Sodi A., Ioannidis A., Pitz S. Ophthalmological manifestations of Fabry disease. In: Fabry disease: perspectives from 5 years of FOS. Eds.: A. Mehta, M. Beck, G. Sunder-Plassmann. Oxford: Oxford PharmaGenesis, 2006. Pp. 249–261.

74. Sweeley C.C., Klionsky B. Fabry’s disease: cla ssifications as a sphingolipidosis and partial characterization of a novel glycolipid. J. Biol Chem 1963;238:3148–50. PMID: 14081947.

75. Thomas A.S., Hughes D.A. Fabry disease. Pediatr Endocrinol Rev 2014;12(suppl 1):88–101. PMID: 25345090.

76. 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):589–99. DOI: 10.1517/17530059.2013.846322. PMID: 24128193.

77. Tondel C., Bostad L., Hirth A., Svarstad E. Renal biopsy findings in children and adolescents with Fabry disease an d minimal albuminuria. Am J Kidney Dis 2008;51(5):767–76. DOI: 10.1053/j.ajkd.2007.12.032. PMID: 18436087.

78. Tondel C., Bostad L., Larsen K.K. et al. Agalsidase benefits renal histology in young pa tients with Fabry disease. J Am Soc Nephrol 2013;24(1):137–48. DOI: 10.1681/ASN.2012030316. PMID: 23274955.

79. Tuttolomondo A., Pecoraro R., Simonetta I. et al. Anderson–Fabry disease: a multiorgan disease. Curr Pharm Des 2013;19(33):5974–96. PMID: 23448451.

80. Üçeyler N., He L., Schönfeld D. et al. Small fibers in Fabry disease: baseline and followup data under enzyme replacement the rapy. J Peripher Nerv Syst 2011;16(4):304–14. DOI: 10.1111/j.1529-8027.2011.00365.x. PMID: 22176145.

81. Van der Tol L., Svarstad E., Ortiz A. et al. Chronic kidney disease and an uncertain di agnosis of Fabry disease: approach to a correct diagnosis. Mol Genet Metab 2015;114(2):242–7. DOI: 10.1016/j.ymgme.2014.08.007. PMID: 25187469.

82. 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. P MID: 24886109.

83. 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. PMID: 23915644.

84. Wraith J.E., Tylki-Szymanska A., Guffon N. et al. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J Pediatr 2008;152(4):563–70. DOI: 10.1016/j.jpeds.2007.09.007. PMID: 18346516.


Для цитирования:


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

For citation:


Kotov A.S., Firsov K.V. NEUROLOGICAL MANIFESTATIONS OF FABRY DISEASE IN CHILDREN AND ADOLESCENTS. Russian Journal of Child Neurology. 2017;12(3):51-57. (In Russ.) https://doi.org/10.17650/2073-8803-2017-12-3-51-57

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