Preview

Нервно-мышечные болезни

Расширенный поиск

Фенотипическая гетерогенность и особенности диагностики транстиретинового амилоидоза с полинейропатией

https://doi.org/10.17650/2222-8721-2021-11-3-12-36

Полный текст:

Аннотация

Транстиретиновый амилоидоз (ATTR-амилоидоз) – системное прогрессирующее фатальное заболевание, для которого в последнее время предложена модифицирующая терапия, задерживающая прогрессирование болезни и улучшающая качество жизни пациента. Задержка диагностики ATTR-амилоидоза связана с неоднородностью проявлений болезни, а также с недостаточной информированностью врачей разных специальностей о заболевании. Представлен обзор последних исследований по симптоматике, диагностике, молекулярно-генетическим характеристикам ATTR-амилоидоза и самых частых форм болезни с преимущественным вовлечением периферических нервов и сердца, а также почек, желудочно-кишечного тракта и глаз. Рассмотрены международные согласительные рекомендации по диагностике при подозрении на наличие ATTR-амилоидоза с использованием современных методов, облегчающие раннюю и точную диагностику. Рассматриваются причины и самые частые ошибочные диагнозы ATTR-амилоидоза, также приводящие к задержке своевременного назначения терапии. Молекулярно-генетическое тестирование следует рассматривать на ранней стадии обследования пациента с необъяснимой периферической нейропатией и кардиомиопатией. Диагностический алгоритм, основанный на начальных симптомах и проявлениях со стороны сердечно-сосудистой и нервной систем, облегчает идентификацию пациента с клиническим подозрением на ATTR-амилоидоз врачом общей практики. Ранняя диагностика критически важна для пациентов с ATTR-полинейропатией, так как раннее назначение препарата Виндакель (тафамидис), зарегистрированного в РФ в 2017 г., позволяет получить значимый клинический эффект. Своевременное назначение препарата Виндакель достоверно замедляет прогрессирование болезни, улучшает прогноз и качество жизни пациентов с ATTR-полинейропатией.

Об авторах

С. С. Никитин
ФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова» Минобрнауки России
Россия

Сергей Сергеевич Никитин

115522 Москва, ул. Москворечье, 1



С. Н. Бардаков
ФГБОУ ВО «Военно-медицинская академия им. С.М. Кирова» Минобороны России
Россия

194044 Санкт-Петербург, ул. Академика Лебедева, 6



Н. А. Супонева
ФГБНУ «Научный центр неврологии»
Россия

125367 Москва, Волоколамское шоссе, 80



И. В. Жиров
ФГБУ «Национальный медицинский исследовательский центр кардиологии» Минздрава России
Россия

121552 Москва, 3-я Черепковская ул., 15а



Т. А. Адян
ФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова» Минобрнауки России
Россия

115522 Москва, ул. Москворечье, 1



Д. А. Гришина
ФГБНУ «Научный центр неврологии»
Россия

125367 Москва, Волоколамское шоссе, 80



Р. В. Деев
ФГБОУ ВО «Северо-Западный государственный медицинский университет им. И.И. Мечникова» Минздрава России
Россия

191015 Санкт-Петербург, ул. Кирочная, 41



Список литературы

1. Бакулина Н.В., Некрасова А.С., Гудкова А.Я. и др. Системный амилоидоз: клинические проявления и диагностика. Эффективная фармакотерапия 2020;(16):68–76. DOI: 10.33978/2307-3586-2020-16-24-68-76.

2. Ando Y., Coelho T., Berk J.L. et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orph J Rare Dis 2013;8:31. DOI: 10.1186/1750-1172-8-31.

3. Лысенко (Козловская) Л.В., Рамеев В.В., Моисеев С.В. и др. Клинические рекомендации по диагностике и лечению системного амилоидоза. Клиническая фармакология и терапия 2020;(29):13–24. DOI 10.32756/0869-5490-2020-1-13-24.

4. Bodin K., Ellmerich S., Kahan M.C. et al. Antibodies to human serum amyloid P component eliminate visceral amyloid deposits. Nature 2010;468:93–7. DOI: 10.1038/nature09494.

5. Rambaran R.N., Serpell L.C. Amyloid fibrils: abnormal protein assembly. Prion 2008;2:112–7. DOI: 10.4161/pri.2.3.7488.

6. Mold M., Shrive A.K., Exley C. Serum amyloid P component accelerates the formation and enhances the stability of amyloid fibrils in a physiologically significant under-saturated solution of amyloid-β42. JAD 2012;29:875–81. DOI: 10.3233/jad-2012-120076.

7. Bergkvist L., Richards D.R., BernardoGancedo A. et al. Serum amyloid P component promotes formation of distinct aggregated lysozyme morphologies and reduces toxicity in Drosophila flies expressing F57I lysozyme. PloS One 2020;15:e0227227. DOI: 10.1371/journal.pone.0227227.

8. Segers-Nolten I., Van Raaij M., Subramaniam V. Biophysical analysis of amyloid formation. In: Comprehensive Biomaterials II: Biologically inspired and biomolecular materials. Amsterdam: Elsevier, 2017. Pp. 438-451.

9. Picken M.M. The pathology of amyloidosis in classification: A review. Acta Haematol 2020;143:322–34. DOI: 10.1159/000506696.

10. Benson M.D., Buxbaum J.N., Eisenberg D.S. et al. Amyloid nomenclature 2018: recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid 2018;25:215–9. DOI: 10.1080/13506129.2018.1549825.

11. Conceição I., Damy T., Romero M. et al. Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations. Amyloid 2019;26:3–9. DOI: 10.1080/13506129.2018.1556156.

12. Manral P., Reixach N. Amyloidogenic and non-amyloidogenic transthyretin variants interact differently with human cardiomyocytes: insights into early events of non-fibrillar tissue damage. Biosci Rep 2015;35. DOI: 10.1042/bsr20140155.

13. Sekijima Y. Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments. J Neurol Neosurg Psych 2015;86:1036–43. DOI: 10.1136/jnnp-2014-308724.

14. Minnella A.M., Rissotto R., Antoniazzi E. et al. Ocular involvement in hereditary amyloidosis. Genes 2021;12. DOI: 10.3390/genes12070955.

15. Andrade C. A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 1952;75:408–27. DOI: 10.1093/brain/75.3.408.

16. Planté-Bordeneuve V., Said G. Familial amyloid polyneuropathy. Lancet Neurol 2011;10:1086–97. DOI: 10.1016/s1474-4422(11)70246-0.

17. Adams D., Koike H., Slama M., Coelho T. Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. Nature Rev. Neurology 2019;15:387–404. DOI: 10.1038/s41582-019-0210-4.

18. Dardiotis E., Koutsou P., Papanicolaou E.Z. et al. Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus. Amyloid 2009;16:32–7. DOI: 10.1080/13506120802676948.

19. Reinés J.B., Vera T.R., Martín M.U. et al. Epidemiology of transthyretin-associated familial amyloid polyneuropathy in the Majorcan area: Son Llàtzer Hospital descriptive study. Orph J Rare Dis 2014;9:29. DOI: 10.1186/1750-1172-9-29.

20. Sarafov S., Gospodinova M., Velina V.G. et al. Epidemiology of Familial Amyloid Polyneuropathy in Bulgaria. Orph J Rare Dis 2015;10:O2. DOI: 10.1186/1750-1172-10-S1-O2.

21. Waddington-Cruz M., Schmidt H., Botteman M.F. et al. Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series. Orph J Rare Dis 2019;14:34. DOI: 10.1186/s13023-019-1000-1.

22. Schmidt H.H., Waddington-Cruz M., Botteman M.F. et al. Estimating the global prevalence of transthyretin familial amyloid polyneuropathy. Muscle Nerve 2018;57:829–37. DOI: 10.1002/mus.26034.

23. Adams D., Ando Y., Beirão J.M. et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. J Neurol 2021;268:2109–22. DOI: 10.1007/s00415-019-09688-0.

24. Planté-Bordeneuve V., Carayol J., Ferreira A. et al. Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families. J Med Genet 2003;40:e120. DOI: 10.1136/jmg.40.11.e120.

25. Hellman U., Alarcon F., Lundgren H.E. et al. Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. Amyloid 2008;15:181–6. DOI: 10.1080/13506120802193720.

26. Kato-Motozaki Y., Ono K., Shima K. et al. Epidemiology of familial amyloid polyneuropathy in Japan: identification of a novel endemic focus. J Neurol Sci 2008;270:133–40. DOI: 10.1016/j.jns.2008.02.019.

27. Adams D. Recent advances in the treatment of familial amyloid polyneuropathy. Ther Adv Neurol Dis 2013;6:129–39. DOI: 10.1177/1756285612470192.

28. Suhr O.B., Lundgren E., Westermark P. One mutation, two distinct disease variants: unravelling the impact of transthyretin amyloid fibril composition. J Int Med 2017;281:337–47. DOI: 10.1111/joim.12585.

29. Yang N.C., Lee M.J., Chao C.C. et al. Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser. Neurology 2010;75:532–8. DOI: 10.1212/WNL.0b013e3181ec7fda.

30. Koike H., Tanaka F., Hashimoto R. et al. Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas. J Neurol Neurosurg Psych 2012;83:152–8. DOI: 10.1136/jnnp-2011-301299.

31. Mariani L.L., Lozeron P., Théaudin M. et al. Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France. Ann Neurol 2015;78:901–16. DOI: 10.1002/ana.24519.

32. Rapezzi C., Quarta C.C., Obici L. et al. Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. Eur Heart J 2013;34:520–8. DOI: 10.1093/eurheartj/ehs123.

33. Maurer M.S., Hanna M., Grogan M. et al. Genotype and phenotype of transthyretin cardiac amyloidosis: THAOS (transthyretin amyloid outcome survey). J Am College Cardiol 2016;68:161–72. DOI: 10.1016/j.jacc.2016.03.596.

34. González-Duarte A., Soto K.C., Martínez-Baños D. et al. Familial amyloidosis with polyneuropathy associated with TTR Ser50Arg mutation. Amyloid 2012;19:171–6. DOI: 10.3109/13506129.2012.712925.

35. Ihse E., Ybo A., Suhr O. et al. Amyloid fibril composition is related to the phenotype of hereditary transthyretin V30M amyloidosis. J Pathol 2008;216:253–61. DOI: 10.1002/path.2411.

36. Saelices L., Chung K., Lee J.H. et al. Amyloid seeding of transthyretin by ex vivo cardiac fibrils and its inhibition. Proc Natl Acad Sci USA 2018;115:E6741–e6750. DOI: 10.1073/pnas.1805131115.

37. Suhr O.B., Wixner J., Anan I. et al. Amyloid fibril composition within hereditary Val30Met (p.Val50Met) transthyretin amyloidosis families. PloS One 2019;14:e0211983. DOI: 10.1371/journal.pone.0211983.

38. Adams D., Cauquil C., Labeyrie C. Familial amyloid polyneuropathy. Curr Op Neurol 2017;30:481–9. DOI: 10.1097/wco.0000000000000476.

39. Martens B., De Pauw M., De Bleecker J.L. Single-centre experience on transthyretin familial amyloid polyneuropathy: case series and literature review. Acta Neurol Belgica 2018;118:179–85. DOI: 10.1007/s13760-018-0906-z.

40. Finsterer J., Iglseder S., Wanschitz J. et al. Hereditary transthyretin-related amyloidosis. Acta Neurol Scandinavica 2019;139:92–105. DOI: 10.1111/ane.13035.

41. Gonzalez-Duarte A., Valdés-Ferrer S.I., Cantú-Brito C. Characteristics and natural history of autonomic involvement in hereditary ATTR amyloidosis: a systematic review. Clin Autonomic Res 2019;29:1–9. DOI: 10.1007/s10286-019-00630-y.

42. Cardoso M., Coelho T., Mundayat R. Overview of patient demographics and clinical characteristics in THAOS – the transthyretin amyloidosis outcomes survey (P05.067). Neurology 2013;80(7 Suppl):P05.067.

43. Barroso F., Ando Y., González-Duarte A. Autonomic symptoms in transthyretin amyloidosis: an analysis of symptomatic subjects from the THAOS REgistry. Peripheral nerve society meeting July 8–12, 2017 Sitges, Barcelona, Spain. J Peripheral Nerv Syst 2017;22:226–14. DOI: 10.1111/jns.12225.

44. Mazzeo A., Russo M., Di Bella G. et al. Transthyretin-related familial amyloid polyneuropathy (TTR-FAP): a singlecenter experience in Sicily, an Italian endemic area. J Neuromusc Dis 2015; 2:S39–S48. DOI: 10.3233/jnd-150091.

45. González-Duarte A., Lem-Carrillo M., Cárdenas-Soto K. Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy. Amyloid 2013;20:221–25. DOI: 10.3109/13506129.2013.827110.

46. Waddington-Cruz M., Ackermann E.J., Polydefkis M. et al. Hereditary transthyretin amyloidosis: baseline characteristics of patients in the NEUROTTR trial. Amyloid 2018;25:180–8. DOI: 10.1080/13506129.2018.1503593.

47. Sperry B.W., Reyes B.A., Ikram A. et al. Tenosynovial and cardiac amyloidosis in patients undergoing carpal tunnel release. J Am College Cardiol 2018;72:2040–50. DOI: 10.1016/j.jacc.2018.07.092.

48. Milandri A., Farioli A., Gagliardi C. et al. Carpal tunnel syndrome in cardiac amyloidosis: implications for early diagnosis and prognostic role across the spectrum of aetiologies. Eur J Heart Failure 2020;22:507–15. DOI: 10.1002/ejhf.1742.

49. Adams D., Lozeron P., Lacroix C. Amyloid neuropathies. Curr Op Neurol 2012;25:564–72. DOI: 10.1097/WCO.0b013e328357bdf6.

50. Adams D., Lozeron P., Theaudin M. et al. Regional difference and similarity of familial amyloidosis with polyneuropathy in France. Amyloid 2012;19(Suppl 1):61–4. DOI: 10.3109/13506129.2012.685665.

51. Miyake Z., Nakamagoe K., Ezawa N. et al. Late-onset transthyretin (TTR)- familial amyloid polyneuropathy (FAP) with a long disease duration from nonendemic areas in Japan. Int Med (Tokyo, Japan) 2019;58:713–8. DOI: 10.2169/internalmedicine.1457-18.

52. Cortese A., Vegezzi E., Lozza A. et al. Diagnostic challenges in hereditary transthyretin amyloidosis with polyneuropathy: avoiding misdiagnosis of a treatable hereditary neuropathy. J Neurol Neurosurg Psych 2017;88:457–8. DOI: 10.1136/jnnp-2016-315262.

53. Lozeron P., Mariani L.L., Dodet P. et al. Transthyretin amyloid polyneuropathies mimicking a demyelinating polyneuropathy. Neurology 2018;91:e143–e152. DOI: 10.1212/wnl.0000000000005777.

54. Théaudin M., Lozeron P., Algalarrondo V. et al. Upper limb onset of hereditary transthyretin amyloidosis is common in non-endemic areas. Eur J Neurol 2019;26:e497–e436. DOI: 10.1111/ene.13845.

55. Cappellari M., Cavallaro T., Ferrarini M. et al. Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. JPNS 2011;16:119–29. DOI: 10.1111/j.1529-8027.2011.00331.x.

56. Goyal N.A., Mozaffar T. Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy: an ALS mimicker. Neurol Genet 2015;1:e18. DOI: 10.1212/nxg.0000000000000018.

57. Conceição I., González-Duarte A., Obici L. et al. “Red-flag” symptom clusters in transthyretin familial amyloid polyneuropathy. JPNS 2016;21:5–9. DOI: 10.1111/jns.12153.

58. Lousada I., Comenzo R.L., Landau H. et al. Patient experience with hereditary and senile systemic amyloidoses: a survey from the Amyloidosis Research Consortium. Orph J Rare Dis 2015;10:P22. DOI: 10.1186/1750-1172-10-S1-P22.

59. Bonaïti B., Alarcon F., Bonaïti-Pellié C., Planté-Bordeneuve V. Parent-of-origin effect in transthyretin related amyloid polyneuropathy. Amyloid 2009;16:149–50. DOI: 10.1080/13506120903093944.

60. Saporta M.A., Zaros C., Cruz M.W. et al. Penetrance estimation of TTR familial amyloid polyneuropathy (type I) in Brazilian families. Eur J Neurol 2009;16:337–41. DOI: 10.1111/j.1468-1331.2008.02429.x.

61. Norgren N., Hellman U., Ericzon B.G. et al. Allele specific expression of the transthyretin gene in swedish patients with hereditary transthyretin amyloidosis (ATTR V30M) is similar between the two alleles. PloS One 2012;7:e49981. DOI: 10.1371/journal.pone.0049981.

62. Norgren N., Olsson M., Nyström H. et al. Gene expression profile in hereditary transthyretin amyloidosis: differences in targeted and source organs. Amyloid 2014;21:113–9. DOI: 10.3109/13506129.2014.894908.

63. Garcia-Pavia P., Rapezzi C., Adler Y. et al. Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2021; 42:1554–68. DOI: 10.1093/eurheartj/ehab072.

64. Ruberg F.L., Grogan M., Hanna M. et al. Transthyretin amyloid cardiomyopathy: JACC state-of-the-art review. J Am College Cardiol 2019;73:2872–91. DOI: 10.1016/j.jacc.2019.04.003.

65. Maurer M.S., Bokhari S., Damy T. et al. Expert consensus recommendations for the suspicion and diagnosis of transthyretin cardiac amyloidosis. Circulation Heart Failure 2019;12:e006075. DOI: 10.1161/circheartfailure.119.006075.

66. González-López E., López-Sainz Á., Garcia-Pavia P. Diagnosis and treatment of transthyretin cardiac amyloidosis. progress and hope. Revista Espanola de Crdiologia (English edn) 2017;70:991–1004. DOI: 10.1016/j.rec.2017.05.036.

67. Lane T., Fontana M., Martinez-Naharro A. et al. Natural history, quality of life, and outcome in cardiac transthyretin amyloidosis. Circulation 2019;140:16–26. DOI: 10.1161/circulationaha.118.038169.

68. Donnelly J.P., Hanna M. Cardiac amyloidosis: an update on diagnosis and treatment. Cleveland Clin J Med 2017;84:12–26. DOI: 10.3949/ccjm.84.s3.02.

69. Nakagawa M., Sekijima Y., Yazaki M. et al. Carpal tunnel syndrome: a common initial symptom of systemic wild-type ATTR (ATTRwt) amyloidosis. Amyloid 2016;23:58–63. DOI: 10.3109/13506129.2015.1135792.

70. Ternacle J., Bodez D., Guellich A. et al. Causes and consequences of longitudinal LV dysfunction assessed by 2D strain echocardiography in cardiac amyloidosis. JACC Cardiovasc Imagining 2016;9:126–38. DOI: 10.1016/j.jcmg.2015.05.014.

71. Dubrey S.W., Hawkins P.N., Falk R.H. Amyloid diseases of the heart: assessment, diagnosis, and referral. Heart 2011;97:75– 84. DOI: 10.1136/hrt.2009.190405.

72. Mohammed S.F., Mirzoyev S.A., Edwards W.D. et al. Left ventricular amyloid deposition in patients with heart failure and preserved ejection fraction. JACC Heart Failure 2014;2:113–22. DOI: 10.1016/j.jchf.2013.11.004.

73. Pinney J.H., Whelan C.J., Petrie A. et al. Senile systemic amyloidosis: clinical features at presentation and outcome. J Am Heart Assoc 2013;2:e000098. DOI: 10.1161/jaha.113.000098.

74. Rozenbaum M.H., Large S., Bhambri R. et al. Impact of delayed diagnosis and misdiagnosis for patients with transthyretin amyloid cardiomyopathy (ATTRCM): a targeted literature review. Cardiol Ther 2021;10:141–59. DOI: 10.1007/s40119-021-00219-5.

75. Jacobson D.R., Gorevic P.D., Buxbaum J.N. A homozygous transthyretin variant associated with senile systemic amyloidosis: evidence for a late-onset disease of genetic etiology. Am J Hum Genet 1990;47:127–36.

76. Rowczenio D.M., Noor I., Gillmore J.D. et al. Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. Hum Mut 2014;35:E2403–E2412. DOI: 10.1002/humu.22619.

77. Quarta C.C., Buxbaum J.N., Shah A.M. et al. The amyloidogenic V122I transthyretin variant in elderly black Americans. New Eng J Med 2015;372:21–9. DOI: 10.1056/NEJMoa1404852.

78. González-López E., Gallego-Delgado M., Guzzo-Merello G. et al. Wild-type transthyretin amyloidosis as a cause of heart failure with preserved ejection fraction. Eur Heart J 2015;36:2585–94. DOI: 10.1093/eurheartj/ehv338.

79. Fontana M., Banypersad S.M., Treibel T.A. et al. Native T1 mapping in transthyretin amyloidosis. JACC Cardiovasc Imagining 2014;7:157–65. DOI: 10.1016/j.jcmg.2013.10.008.

80. Maurer M.S. Noninvasive identification of ATTRwt cardiac amyloid: The reemergence of nuclear cardiology. Am J Med 2015;128:1275–80. DOI: 10.1016/j.amjmed.2015.05.039.

81. Beirão I., Lobato L., Costa P.M. et al. Kidney and anemia in familial amyloidosis type I. Kidney Int 2004;66:2004–9. DOI: 10.1111/j.1523-1755.2004.00971.x.

82. Moreira C.L., Rocha A., Santos J. et al. The ever-growing understanding of transthyretin amyloidosis nephropathy. Amyloid 2017;24:117–8. DOI: 10.1080/13506129.2017.1293645.

83. Lobato L., Beirão I., Silva M. et al. Endstage renal disease and dialysis in hereditary amyloidosis TTR V30M: presentation, survival and prognostic factors. Amyloid 2004;11:27–37. DOI: 10.1080/13506120410001673884.

84. Yoshimura Y., Kuwabara T., Shiraishi N. et al. Transthyretin-related familial amyloidotic polyneuropathy found with abnormal urinalysis at a general health checkup. Nephrology (Carlton) 2016;21:341–2. DOI: 10.1111/nep.12610.

85. Xu J., Yang M., Pan X. et al. Transthyretin-related hereditary amyloidosis with recurrent vomiting and renal insufficiency as the initial presentation. Medicine 2017;96. DOI: 10.1097/md.0000000000005737.

86. Lobato L., Beirão I., Silva M. et al. Familial ATTR amyloidosis: microalbuminuria as a predictor of symptomatic disease and clinical nephropathy. Nephrol Dial Transpl 2003;18:532–8. DOI: 10.1093/ndt/18.3.532.

87. Rocha A., Silva A., Cardoso M. et al. Transthyretin (ATTR) amyloidosis nephropathy: lessons from a TTR stabilizer molecule. Amyloid 2017;24:81–2. DOI: 10.1080/13506129.2016.1277697.

88. Lobato L. Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M). J Nephrol 2003;16:438–42.

89. Lobato L., Rocha A. Transthyretin amyloidosis and the kidney. Clin J Am Soc Nephrol 2012;7:1337–46. DOI: 10.2215/cjn.08720811.

90. Lobato L., Beirão I., Guimarães S.M. et al. Familial amyloid polyneuropathy type I (Portuguese): distribution and characterization of renal amyloid deposits. Am J Kidney Dis 1998;31:940–6. DOI: 10.1053/ajkd.1998.v31.pm9631837.

91. Oguchi K., Takei Y., Ikeda S. Value of renal biopsy in the prognosis of liver transplantation in familial amyloid polyneuropathy ATTR Val30Met patients. Amyloid 2006;13:99–107. DOI: 10.1080/13506120600722662.

92. Takahashi K., Sakashita N., Ando Y. et al. Late onset type I familial amyloidotic polyneuropathy: presentation of three autopsy cases in comparison with 19 autopsy cases of the ordinary type. Pathol Int 1997;47:353–9. DOI: 10.1111/j.1440-1827.1997.tb04508.x.

93. Rubinger D., Sapoznikov D., Pollak A. et al. Heart rate variability during chronic hemodialysis and after renal transplantation: studies in patients without and with systemic amyloidosis. J Am Soc Nephrol 1999;10:1972–81. DOI: 10.1681/asn.V1091972.

94. Suhr O.B., Herlenius G., Friman S., Ericzon B.G. Liver transplantation for hereditary transthyretin amyloidosis. Liver Transpl 2000;6:263–76. DOI: 10.1053/lv.2000.6145.

95. Saraiva M.J., Costa P.P., Birken S., Goodman D.S. Presence of an abnormal transthyretin (prealbumin) in Portuguese patients with familial amyloidotic polyneuropathy. Trans Assoc Am Physicians 1983;96:261–70.

96. Liu J.Y., Guo Y.J., Zhou C.K. et al. Clinical and histopathological features of familial amyloidotic polyneuropathy with transthyretin Val30Ala in a Chinese family. J Neurol Sci 2011;304:83–6. DOI: 10.1016/j.jns.2011.02.005.

97. Lim A., Prokaeva T., McComb M.E. et al. Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe33Cys variant from a patient diagnosed with familial transthyretin amyloidosis. Protein Sci 2003;12:1775–85. DOI: 10.1110/ps.0349703.

98. Gafni J., Fischel B., Reif R. et al. Amyloidotic polyneuropathy in a Jewish family. Evidence for the genetic heterogeneity of the lower limb familial amyloidotic neuropathies. Quarterly J Med 1985;55:33–44.

99. Pelo E., Da Prato L., Ciaccheri M. et al. Familial amyloid polyneuropathy with genetic anticipation associated to a gly47glu transthyretin variant in an Italian kindred. Amyloid 2002;9:35–41. DOI: 10.3109/13506120209072443.

100. Booth D., Soutar A., Hawkins P. et al. Three new amyloidogenic transthyretin gene mutations advantages of direct sequencing. New York: Parthenon Publishing Group Inc., 1993.

101. Holmgren G., Hellman U., Anan I. et al. Cardiomyopathy in Swedish patients with the Gly53Glu and His88Arg transthyretin variants. Amyloid 2005;12:184–8. DOI: 10.1080/13506120500223126.

102. Booth D.R., Gillmore J.D., Persey M.R. et al. Transthyretin Ile73Val is associated with familial amyloidotic polyneuropathy in a Bangladeshi family. Mutations in brief No. 158. Online Hum Mut 1998;12:135. DOI: 10.1002/(sici)1098-1004(1998)12:2<135::Aid-humu10>3.0.Co;2-6.

103. Wallace M.R., Dwulet F.E., Williams E.C. et al. Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis. J Clin Invest 1988;81:189–93. DOI: 10.1172/jci113293.

104. Riboldi G., Del Bo R., Ranieri M. et al. Tyr78Phe transthyretin mutation with predominant motor neuropathy as the initial presentation. Case Rep Neurol 2011;3:62–8. DOI: 10.1159/000324925

105. Kristen A.V., Ehlermann P., Helmke B. et al. Transthyretin valine-94-alanine, a novel variant associated with late-onset systemic amyloidosis with cardiac involvement. Amyloid 2007;14:283–7. DOI: 10.1080/13506120701616383.

106. De Lucia R., Mauro A., Di Scapio A. et al. A new mutation on the transthyretin gene (Ser112 to Ile) causes an amyloid neuropathy with severe cardiac impairment. Clin Neuropathol 1993;12.

107. Bergström J., Patrosso M.C., Colussi G. et al. A novel type of familial transthyretin amyloidosis, ATTR Asn124Ser, with co-localization of kappa light chains. Amyloid 2007;14:141–5. DOI: 10.1080/13506120701259895.

108. Никитина Е.Н., Воробьева О.А. Семейный транстиретиновый амилоидоз: мини-обзор и описание трех случаев среди членов одной семьи. Нефрология и диализ 2018;(20):312–23. DOI: 10.28996/2618-9801-2018-3-312-323.

109. Martins A.C., Rosa A.M., Costa E. et al. Ocular manifestations and therapeutic options in patients with familial amyloid polyneuropathy: a systematic review. Biomed Res Int 2015;2015:282405. DOI: 10.1155/2015/282405.

110. Beirão J.M., Malheiro J., Lemos C. et al. Ophthalmological manifestations in hereditary transthyretin (ATTR V30M) carriers: a review of 513 cases. Amyloid 2015;22:117–22. DOI: 10.3109/13506129.2015.1015678.

111. Yoshinaga T., Yazaki M., Kametani F. et al. Marked biochemical difference in amyloid proportion between intra- and extraocular tissues in a liver-transplanted patient with hereditary ATTR amyloidosis. Amyloid 2017;24:17–23. DOI: 10.1080/13506129.2016.1276055.

112. Beirão J.M., Malheiro J., Lemos C. et al. Impact of liver transplantation on the natural history of oculopathy in Portuguese patients with transthyretin (V30M) amyloidosis. Amyloid 2015;22:31–5. DOI: 10.3109/13506129.2014.989318.

113. Haraoka K., Ando Y., Ando E. et al. Amyloid deposition in ocular tissues of patients with familial amyloidotic polyneuropathy (FAP). Amyloid 2002;9:183–9. DOI: 10.3109/13506120209114820.

114. Beirão M., Matos E., Beirão I. et al. No ocular involvement in familial amyloidotic polyneuropathy ATTR V30M domino liver recipients. Transpl Int 2012;25:646–51. DOI: 10.1111/j.1432-2277.2012.01467.x.

115. Liepnieks J.J., Phan A.D., Wise R.J. et al. Biochemical characterization of vitreous amyloid formed after liver transplantation. Amyloid 2016;23:136–7. DOI: 10.3109/13506129.2016.1165197.

116. Hara R., Kawaji T., Ando E. et al. Impact of liver transplantation on transthyretinrelated ocular amyloidosis in Japanese patients. Arch Ophthalmol (Chicago, Ill: 1960) 2010;128:206–10. DOI: 10.1001/archophthalmol.2009.390.

117. Ando E., Ando Y., Okamura R. et al. Ocular manifestations of familial amyloidotic polyneuropathy type I: long-term follow up. Brit J Ophtalmol 1997;81:295–8. DOI: 10.1136/bjo.81.4.295.

118. Dermarkarian C.R., Bhatt A., ChévezBarrios P., Allen R.C. Bilateral acquired nasolacrimal duct obstruction secondary to amyloidosis in a 15-year-old. J AAPOS 2021;25:126–8. DOI: 10.1016/j.jaapos.2020.11.011.

119. Dodd M.U., Wolkow N., Cunnane M.E. et al. Isolated orbital amyloidosis causing internal and external ophthalmoplegia. J AAPOS 2020;24:48–51.e41. DOI: 10.1016/j.jaapos.2019.11.003.

120. Kang S., Dehabadi M.H., Rose G.E. et al. Ocular amyloid: adnexal and systemic involvement. Orbit (Amsterdam, Netherlands) 2020;39:13–7. DOI: 10.1080/01676830.2019.1594988.

121. Wixner J., Mundayat R., Karayal O.N. et al. THAOS: gastrointestinal manifestations of transthyretin amyloidosis – common complications of a rare disease. Orph J Rare Dis 2014;9:61. DOI: 10.1186/1750-1172-9-61.

122. Freudenthaler S., Hegenbart U., Schönland S. et al. Amyloid in biopsies of the gastrointestinal tract-a retrospective observational study on 542 patients. Virch Arch 2016;468:569–77. DOI: 10.1007/s00428-016-1916-y.

123. Yoshimatsu S., Ando Y., Terazaki H. et al. Endoscopic and pathological manifestations of the gastrointestinal tract in familial amyloidotic polyneuropathy type I (Met30). J Int Med 1998;243:65–72. DOI: 10.1046/j.1365-2796.1998.00247.x.

124. Wixner J., Karling P., Rydh A. et al. Gastric emptying in hereditary transthyretin amyloidosis: the impact of autonomic neuropathy. Neurogastroenterol Motil 2012;24:e1111–e1568. DOI: 10.1111/j.1365-2982.2012.01991.x.

125. Obayashi K., Olsson M., Anan I. et al. Impact of serotonin transporter and catechol-O-methyl transferase genes polymorphism on gastrointestinal dysfunction in Swedish and Japanese familial amyloidotic polyneuropathy patients. Clin Chim Acta 2008;398:10–4. DOI: 10.1016/j.cca.2008.07.033.

126. Tashima K., Suhr O.B., Ando Y. et al. Gastrointestinal dysfunction in familial amyloidotic polyneuropathy (ATTR Val30Met) – comparison of Swedish and Japanese patients. Amyloid 1999;6:124–9. DOI: 10.3109/13506129909007313.

127. Conceição I. Clinical features of TTR-FAP in Portugal. Amyloid 2012;19(Suppl 1):71–2. DOI: 10.3109/13506129.2012.673184.

128. Suhr O.B., Svendsen I.H., Andersson R. et al. Hereditary transthyretin amyloidosis from a Scandinavian perspective. J Int Med 2003;254:225–35. DOI: 10.1046/j.1365-2796.2003.01173.x.

129. Gertz M., Adams D., Ando Y. et al. Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner. BMC Family Practice 2020;21:198. DOI: 10.1186/s12875-020-01252-4.

130. Allen J.A. The misdiagnosis of CIDP: a review. Neurol Ther 2020;9:43–54. DOI: 10.1007/s40120-020-00184-6.

131. Damy T., Costes B., Hagège A.A. et al. Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness. Eur Heart J 2016;37:1826–34. DOI: 10.1093/eurheartj/ehv583.

132. Parato V.M., Antoncecchi V., Sozzi F. et al. Echocardiographic diagnosis of the different phenotypes of hypertrophic cardiomyopathy. Cardiovasc Ultrasound 2016;14:30. DOI: 10.1186/s12947-016-0072-5.

133. Rapezzi C., Lorenzini M., Longhi S. et al. Cardiac amyloidosis: the great pretender. Heart Failure Rev 2015;20:117–24. DOI: 10.1007/s10741-015-9480-0.

134. Gustavsson S., Granåsen G., Grönlund C. et al. Can echocardiography and ECG discriminate hereditary transthyretin V30M amyloidosis from hypertrophic cardiomyopathy? Amyloid 2015;22:163–70. DOI: 10.3109/13506129.2015.1037831.

135. Koike H., Hashimoto R., Tomita M. et al. Diagnosis of sporadic transthyretin Val30Met familial amyloid polyneuropathy: a practical analysis. Amyloid 2011;18:53–62. DOI: 10.3109/13506129.2011.565524.

136. Наумова Е.С., Никитин С.С., Адян Т.А. и др. Клинический случай транстиретинового амилоидоза с задержкой верификации диагноза у полностью обследованной больной. Нервномышечные болезни 2018;8(1):46–52. . DOI: 10.17650/2222-8721-2018-8-1-46-52.

137. Westermark P., Westermark G.T., Suhr O.B., Berg S. Transthyretin-derived amyloidosis: probably a common cause of lumbar spinal stenosis. Upsala J Med Sci 2014;119:223–8. DOI: 10.3109/03009734.2014.895786.

138. Luigetti M., Romozzi M., Bisogni G. et al. hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers. Brain Sci 2020;10. DOI: 10.3390/brainsci10110780.

139. Fine N.M., Arruda-Olson A.M., Dispenzieri A. et al. Yield of noncardiac biopsy for the diagnosis of transthyretin cardiac amyloidosis. Am J Cardiol 2014;113:1723–7. DOI: 10.1016/j.amjcard.2014.02.030.

140. Jinno Y., Matsumoto T., Kamei T. et al. Localization of the human prealbumin gene to 18p11.1-q12.3 by gene dose effect study of Southern blot hybridization. Jpn J Hum Genet 1986;31:243–8. DOI: 10.1007/BF01870754.

141. Sparkes R.S., Sasaki H., Mohandas T. et al. Assignment of the prealbumin (PALB) gene (familial amyloidotic polyneuropathy) to human chromosome region 18q11.2-q12.1. Hum Genet 1987;75:151–4. DOI: 10.1007/bf00591077.

142. Wallace M.R., Naylor S.L., KluveBeckerman B. et al. Localization of the human prealbumin gene to chromosome 18. Biochem Biophysical Res Comm 1985;129:753–8. DOI: 10.1016/0006-291x(85)91956-4.

143. Sasaki H., Yoshioka N., Takagi Y., Sakaki Y. Structure of the chromosomal gene for human serum prealbumin. Gene 1985;37:191–7. DOI: 10.1016/0378-1119(85)90272-0.

144. Mita S., Maeda S., Shimada K., Araki S. Cloning and sequence analysis of cDNA for human prealbumin. Biochem Biophysical Res Comm 1984;124:558–64. DOI: 10.1016/0006-291x(84)91590-0.

145. Sequence Variant Nomenclature. Available at: http://varnomen.hgvs.org/.

146. QIAGEN Digital Insights. Available at: https://portal.biobase-international.com/hgmd/pro/gene.php?gene=ttr.

147. Sekijima Y., Hammarstrom P., Matsumura M. et al. Energetic characteristics of the new transthyretin variant A25T may explain its atypical central nervous system pathology. Lab Invest 2003;83:409–17.

148. Sekijima Y. Recent progress in the understanding and treatment of transthyretin amyloidosis. J Clin Pharm Ther 2014; 39:225–33. DOI: 10.1111/jcpt.12145.

149. Sekijima Y., Wiseman R.L., Matteson J. et al. The biological and chemical basis for tissue-selective amyloid disease. Cell 2005;121:73–85. DOI: 10.1016/j.cell.2005.01.018.

150. Connors L.H., Lim A., Prokaeva T. et al. Tabulation of human transthyretin (TTR) variants, 2003. Amyloid 2003;10:160–84. DOI: 10.3109/13506120308998998.

151. gnomAD. Genome Aggregation Database. Available at: http://gnomad.broadinstitute.org/.

152. Dorbala S., Ando Y., Bokhari S. et al. ASNC/AHA/ASE/EANM/HFSA/ISA/SCMR/SNMMI expert consensus recommendations for multimodality imaging in cardiac amyloidosis: Part 1 of 2-evidence base and standardized methods of imaging. J Nucl Cardiol 2019;26:2065–123. DOI: 10.1007/s12350-019-01760-6.

153. Parman Y., Adams D., Obici L. et al. Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP. Curr Op Neurol 2016;29(Suppl 1):S3–S13. DOI: 10.1097/wco.0000000000000288.

154. Saraiva M.J., Birken S., Costa P.P., Goodman D.S. Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin). J Clin Invest 1984;74:104–19. DOI: 10.1172/jci111390.

155. Harding J., Skare J., Skinner M. A second transthyretin mutation at position 33 (Leu/Phe) associated with familial amyloidotic polyneuropathy. Biochim Biophys Acta 1991;1097(3):183–6. DOI: 10.1016/0925-4439(91)90033-6.

156. Lavigne-Moreira C., Marques V.D., Goncalves M.V.M. et al. The genetic heterogeneity of hereditary transthyretin amyloidosis in a sample of the Brazilian population. JPNS 2018;23:134–7. DOI: 10.1111/jns.12259.

157. Yamashita T., Ueda M., Misumi Y. et al. Genetic and clinical characteristics of hereditary transthyretin amyloidosis in endemic and non-endemic areas: experience from a single-referral center in Japan. J Neurol 2018;265:134–40. DOI: 10.1007/s00415-017-8640-7.

158. Carr A.S., Pelayo-Negro A.L., Evans M.R. et al. A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK. J Neurol Neurosurg Psych 2016;87:620–7. DOI: 10.1136/jnnp-2015-310907.

159. Zhen D.B., Swiecicki P.L., Zeldenrust S.R. et al. Frequencies and geographic distributions of genetic mutations in transthyretin- and non-transthyretinrelated familial amyloidosis. Clin Genet 2015;88:396–400. DOI: 10.1111/cge.12500.

160. Leung N., Nasr S.H., Sethi S. How I treat amyloidosis: the importance of accurate diagnosis and amyloid typing. Blood 2012;120:3206–13. DOI: 10.1182/blood-2012-03-413682.

161. Treglia G., Glaudemans A.W.J.M., Bertagna F. et al. Diagnostic accuracy of bone scintigraphy in the assessment of cardiac transthyretinrelated amyloidosis: a bivariate meta-analysis. Eur J Nucl Med Mol Imaging 2018;45(11):1945–55. DOI: 10.1007/s00259-018-4013-4.

162. Инструкция по медицинскому применению препарата Виндакель ЛП-004181.

163. Waddington Cruz M., Benson M.D. A review of tafamidis for the treatment of transthyretin-related amyloidosis. Neuro Ther 2015;4:61–79. DOI: 10.1007/s40120-015-0031-3.

164. Coelho T., Maia L.F., Martins da Silva A. et al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology 2012;79:785–92. DOI: 10.1212/WNL.0b013e3182661eb1.

165. Coelho T., Maia L.F., da Silva A.M. et al. Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy. J Neurol 2013;260:2802–14. DOI: 10.1007/s00415-013-7051-7.

166. Merlini G., Planté-Bordeneuve V., Judge D.P. et al. Effects of tafamidis on transthyretin stabilization and clinical outcomes in patients with non-Val30Met transthyretin amyloidosis. J Cardiovasc Transl Res 2013;6:1011–20. DOI: 10.1007/s12265-013-9512-x.

167. Gundapaneni B.K., Sultan M.B., Keohane D.J., Schwartz J.H. Tafamidis delays neurological progression comparably across Val30Met and nonVal30Met genotypes in transthyretin familial amyloid polyneuropathy. Eur J Neurol 2018;25:464–8. DOI: 10.1111/ene.13510.

168. Waddington Cruz M., Amass L., Keohane D., Schwartz J., Li H., Gundapaneni B. Early intervention with tafamidis provides long-term (5.5-year) delay of neurologic progression in transthyretin hereditary amyloid polyneuropathy. Amyloid 2016;23:178–83. DOI: 10.1080/13506129.2016.1207163.

169. Coelho T., Inês M., Conceição I. et al. Natural history and survival in stage 1 Val30Met transthyretin familial amyloid polyneuropathy. Neurology 2018;91:e1999–e2009. DOI: 10.1212/wnl.0000000000006543.

170. Супонева Н.А., Ризванова А.С., Белова Н.В. Современные представления о лечении пациентов с транстиретиновой семейной амилоидной полиневропатией. Нервные болезни 2019;(2):18–24. DOI: 10.24411/2226-0757-2019-12100.


Рецензия

Для цитирования:


Никитин С.С., Бардаков С.Н., Супонева Н.А., Жиров И.В., Адян Т.А., Гришина Д.А., Деев Р.В. Фенотипическая гетерогенность и особенности диагностики транстиретинового амилоидоза с полинейропатией. Нервно-мышечные болезни. 2021;11(3):12-36. https://doi.org/10.17650/2222-8721-2021-11-3-12-36

For citation:


Nikitin S.S., Bardakov S.N., Suponeva N.A., Zhirov I.V., Adyan T.A., Grishina D.A., Deev R.V. Phenotypic heterogeneity and diagnostic features of transthyretin amyloidosis with polyneuropathy. Neuromuscular Diseases. 2021;11(3):12-36. (In Russ.) https://doi.org/10.17650/2222-8721-2021-11-3-12-36

Просмотров: 481


Creative Commons License
Контент доступен под лицензией Creative Commons Attribution 4.0 License.


ISSN 2222-8721 (Print)
ISSN 2413-0443 (Online)