Val30Met-транстиретиновая амилоидная полиневропатия и кардиомиопатия (обзор литературы и клиническое наблюдение)

1. Sekijima Y, Kelly JW, Ikeda S. Pathogenesis of and therapeutic strategies to ameliorate the transthyretin amyloidoses. Curr Pharm Des 2008; 14 (30): 3219–30.
2. Sekijima Y, Uchiyama S, Tojo K et al. High prevalence of wild-type transthyretin deposition in patients with idiopathic carpal tunnel syndrome: a common cause of carpal tunnel syndrome in the elderly. Hum Pathol 2011; 42: 1785–91. DOI: 10.1016/j.humpath.2011.03.004
3. Sipe JD, Benson MD, Buxbaum JN et al. Amyloid fibril proteins and amyloidosis: chemical identification and clinical classification International Society of Amyloidosis 2016 Nomenclature Guidelines. Amyloid 2016; 23 (4): 209–13. DOI: 10.1080/13506129.2016.1257986
4. Connors LH, Sam F, Skinner M et al. Heart Failure Resulting From Age-Related Cardiac Amyloid Disease Associated With Wild-Type Transthyretin A Prospective, Observational Cohort Study. Circulation. 2016; 133: 282–90. DOI: 10.1161/CIRCULATIONAHA.115.018852
5. Andrade C, Canijo M, Klein D et al. The genetic aspects of the familial amyloidotic polyneuropathy: Portuguese type of amyloidosis. Hum Genet 1969; 7: 163–75.
6. Sebastião MP, Lamzin V, Saraiva MJ et al. Transthyretin stability as a key factor in amyloidogenesis: X-ray analysis at atomic resolution. J Mol Biol 2001; 306: 733–44. DOI: 10.1006/jmbi.2000.4415
7. Plante-Bordeneuve V. Update in the diagnosis and management of transthyretin familial amyloid polyneuropathy. J Neurol 2014; 261 (6): 1227–33. DOI: 10.1007/s00415-014-7373-0
8. Planté-Bordeneuve V, Said G. Familial amyloid polyneuropathy. Lancet Neurol 2011; 10 (12): 1086–97. DOI: 10.1016/S1474-4422(11)70246-0
9. Maurer MS, Hanna M, Grogan M et al. THAOS Investigators. Genotype and Phenotype of Transthyretin Cardiac Amyloidosis: THAOS (Transthyretin Amyloid Outcome Survey). J Am Coll Cardiol 2016; 68 (2): 161 72. DOI: 10.1016/j.jacc.2016.03.596
10. Misu K, Hattori N, Nagamatsu M et al. Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Brain 1999; 122: 1951–62.
11. Conceição I, de Carvalho M. Clinical variability in type I familial amyloid polyneuropathy (Val30Met): comparison between late- and early-onset cases in Portugal. Muscle Nerve 2007; 35 (1): 116–8. DOI: 10.1002/mus.20644
12. Sobue G, Koike H, Misu K et al. Clinicopathologic and genetic features of early- and late-onset FAP type I (FAP ATTR Val30Met) in Japan. Amyloid 2003; 10 (Suppl. 1): 32–8.
13. Conceição I, González-Duarte A, Obici L et al. “Red-flag” symptom clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst 2016; 21 (1): 5–9. DOI: 10.1111/jns.12153
14. Dubrey SW, Hawkins PN, Falk RH. Amyloid diseases of the heart: assessment, diagnosis, and referral. Heart 2011; 97 (1): 75–84. DOI: 10.1136/hrt.2009.190405
15. Elliott PM, Anastasakis A, Borger MA et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy. Eur Heart J 2014; 35: 2733–79. DOI: 10.1093/eurheartj/ehu284
16. Hoyer C, Angermann CE, Knop S et al. Cardiac amyloidosis. Med Klin (Munich) 2008; 103 (3): 153–60. DOI: 10.1007/s00063-008-1022-2
17. Hassan W, Al-Sergani H, Mourad W et al. Amyloid heart disease. New frontiers and insights in pathophysiology, diagnosis, and management. Tex Heart Inst J 2005; 32 (2): 178–84.
18. Hongo M, Yamamoto H, Kohda T et al. Comparison of electrocardiographic findings in patients with AL (primary) amyloid polyneuropathy and angina pain and their relation to histopathologic findings. Am J Cardiol 2000; 85: 849–53.
19. Papachan A, Sliwa K, Gildenhuys A et al. Cardiac amyloidosis presenting as pseudo-hypertrophic cardiomyopathy. Cardivascular J S Africa 2004; 15 (3): 136–8.
20. Ando Y, Coelho T, Berk JL et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis 2013; 20 (8): 31. DOI: 10.1186/1750-1172-8-31
21. Hou X, Aguilar MI, Small DH. Transthyretin and familial amyloidotic polyneuropathy. Recent progress in understanding the molecular mechanism of neurodegeneration. FEBS J 2007; 274: 1637–50. DOI: 10.1111/j.1742-4658.2007.05712.x
22. Coelho T, Maurer MS, Suhr OB et al. THAOS – The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis. Curr Med Res Opin 2013; 29 (1): 63–76. DOI: 10.1185/03007995.2012.754348
23. Adams D, Lozeron P, Lacroix C et al. Amyloid neuropathies. Curr Opin Neurol 2012; 25: 564–72. DOI: 10.1097/WCO.0b013e328357bdf6
24. 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
25. Goto T, Yamashita T, Ueda M et al. Iatrogenic amyloid neuropathy in a Japanese patient after sequential liver transplantation. Am J Transplant 2006; 6 (10): 2512–5. DOI: 10.1111/j.1600-6143.2006.01484.x
26. Yamashita T, Ando Y, Okamoto S et al. Long-term survival after liver transplantation in patients with familial amyloid polyneuropathy. Neurology 2012; 78 (9): 637–43. DOI: 10.1212/WNL.0b013e318248df18
27. Herlenius G, Wilczek HE, Larsson M et al. Ten years of international experience with liver transplantation for familial amyloidotic polyneuropathy: results from the Familial Amyloidotic Polyneuropathy World Transplant Registry. Transplantation 2004, 77: 64–71. DOI: 10.1097/01.TP.00000092307.98347.C.B
28. Bulawa CE, Connelly S, Devit M et al. Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade. Proc Natl Acad Sci USA 2012; 109: 9629–34. DOI: 10.1073/pnas.1121005109
29. Maurer MS, Grogan DR, Judge DP et al. Tafamidis in transthyretin amyloid cardiomyopathy: Effects on transthyretin stabilization and clinical outcomes. Circ Heart Fail 2015; 8 (3): 519–26. DOI: 10.1161/CIRCHEARTFAILURE.113.000890
30. Berk JL, Dyck PJ, Obici L et al. The diflunisal trial: update on study drug tolerance and disease progression. Amyloid 2011; 18 (Suppl. 1): 191–2. DOI: 10.3109/13506129.2011.574354073
31. Sekijima Y, Dendle MA, Kelly JW. Orally administered diflunisal stabilizes transthyretin against dissociation required for amyloidogenesis. Amyloid 2006; 13: 236–49. DOI: 10.1080/13506120600960882
32. Tojo K, Sekijima Y, Kelly JW et al. Diflunisal stabilizes familial amyloid polyneuropathy-associated transthyretin variant tetramers in serum against dissociation required for amyloidogenesis. Neurosci Res 2006; 56: 441–9. DOI: 10.1016/j.neures.2006.08.014.
33. Johnson SM, Connelly S, Fearns C et al. The transthyretin amyloidoses: from delineating the molecular mechanism of aggregation linked to pathology to a regulatory-agency-approved drug. J Mol Biol 2012; 421 (2–3): 185–203. DOI: 10.1016/j.jmb.2011.12.060
34. Adams D, Cauquil C, Labeyrie C et al. TTR kinetic stabilizers and TTR gene silencing: a new era in therapy for familial amyloidotic polyneuropathies. Expert Opin Pharmacother 2016; 17 (6): 791–802. DOI: 10.1517/14656566.2016.1145664

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1. Sekijima Y, Kelly JW, Ikeda S. Pathogenesis of and therapeutic strategies to ameliorate the transthyretin amyloidoses. Curr Pharm Des 2008; 14 (30): 3219–30.
2. Sekijima Y, Uchiyama S, Tojo K et al. High prevalence of wild-type transthyretin deposition in patients with idiopathic carpal tunnel syndrome: a common cause of carpal tunnel syndrome in the elderly. Hum Pathol 2011; 42: 1785–91. DOI: 10.1016/j.humpath.2011.03.004
3. Sipe JD, Benson MD, Buxbaum JN et al. Amyloid fibril proteins and amyloidosis: chemical identification and clinical classification International Society of Amyloidosis 2016 Nomenclature Guidelines. Amyloid 2016; 23 (4): 209–13. DOI: 10.1080/13506129.2016.1257986
4. Connors LH, Sam F, Skinner M et al. Heart Failure Resulting From Age-Related Cardiac Amyloid Disease Associated With Wild-Type Transthyretin A Prospective, Observational Cohort Study. Circulation. 2016; 133: 282–90. DOI: 10.1161/CIRCULATIONAHA.115.018852
5. Andrade C, Canijo M, Klein D et al. The genetic aspects of the familial amyloidotic polyneuropathy: Portuguese type of amyloidosis. Hum Genet 1969; 7: 163–75.
6. Sebastião MP, Lamzin V, Saraiva MJ et al. Transthyretin stability as a key factor in amyloidogenesis: X-ray analysis at atomic resolution. J Mol Biol 2001; 306: 733–44. DOI: 10.1006/jmbi.2000.4415
7. Plante-Bordeneuve V. Update in the diagnosis and management of transthyretin familial amyloid polyneuropathy. J Neurol 2014; 261 (6): 1227–33. DOI: 10.1007/s00415-014-7373-0
8. Planté-Bordeneuve V, Said G. Familial amyloid polyneuropathy. Lancet Neurol 2011; 10 (12): 1086–97. DOI: 10.1016/S1474-4422(11)70246-0
9. Maurer MS, Hanna M, Grogan M et al. THAOS Investigators. Genotype and Phenotype of Transthyretin Cardiac Amyloidosis: THAOS (Transthyretin Amyloid Outcome Survey). J Am Coll Cardiol 2016; 68 (2): 161 72. DOI: 10.1016/j.jacc.2016.03.596
10. Misu K, Hattori N, Nagamatsu M et al. Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Brain 1999; 122: 1951–62.
11. Conceição I, de Carvalho M. Clinical variability in type I familial amyloid polyneuropathy (Val30Met): comparison between late- and early-onset cases in Portugal. Muscle Nerve 2007; 35 (1): 116–8. DOI: 10.1002/mus.20644
12. Sobue G, Koike H, Misu K et al. Clinicopathologic and genetic features of early- and late-onset FAP type I (FAP ATTR Val30Met) in Japan. Amyloid 2003; 10 (Suppl. 1): 32–8.
13. Conceição I, González-Duarte A, Obici L et al. “Red-flag” symptom clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst 2016; 21 (1): 5–9. DOI: 10.1111/jns.12153
14. Dubrey SW, Hawkins PN, Falk RH. Amyloid diseases of the heart: assessment, diagnosis, and referral. Heart 2011; 97 (1): 75–84. DOI: 10.1136/hrt.2009.190405
15. Elliott PM, Anastasakis A, Borger MA et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy. Eur Heart J 2014; 35: 2733–79. DOI: 10.1093/eurheartj/ehu284
16. Hoyer C, Angermann CE, Knop S et al. Cardiac amyloidosis. Med Klin (Munich) 2008; 103 (3): 153–60. DOI: 10.1007/s00063-008-1022-2
17. Hassan W, Al-Sergani H, Mourad W et al. Amyloid heart disease. New frontiers and insights in pathophysiology, diagnosis, and management. Tex Heart Inst J 2005; 32 (2): 178–84.
18. Hongo M, Yamamoto H, Kohda T et al. Comparison of electrocardiographic findings in patients with AL (primary) amyloid polyneuropathy and angina pain and their relation to histopathologic findings. Am J Cardiol 2000; 85: 849–53.
19. Papachan A, Sliwa K, Gildenhuys A et al. Cardiac amyloidosis presenting as pseudo-hypertrophic cardiomyopathy. Cardivascular J S Africa 2004; 15 (3): 136–8.
20. Ando Y, Coelho T, Berk JL et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis 2013; 20 (8): 31. DOI: 10.1186/1750-1172-8-31
21. Hou X, Aguilar MI, Small DH. Transthyretin and familial amyloidotic polyneuropathy. Recent progress in understanding the molecular mechanism of neurodegeneration. FEBS J 2007; 274: 1637–50. DOI: 10.1111/j.1742-4658.2007.05712.x
22. Coelho T, Maurer MS, Suhr OB et al. THAOS – The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis. Curr Med Res Opin 2013; 29 (1): 63–76. DOI: 10.1185/03007995.2012.754348
23. Adams D, Lozeron P, Lacroix C et al. Amyloid neuropathies. Curr Opin Neurol 2012; 25: 564–72. DOI: 10.1097/WCO.0b013e328357bdf6
24. 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
25. Goto T, Yamashita T, Ueda M et al. Iatrogenic amyloid neuropathy in a Japanese patient after sequential liver transplantation. Am J Transplant 2006; 6 (10): 2512–5. DOI: 10.1111/j.1600-6143.2006.01484.x
26. Yamashita T, Ando Y, Okamoto S et al. Long-term survival after liver transplantation in patients with familial amyloid polyneuropathy. Neurology 2012; 78 (9): 637–43. DOI: 10.1212/WNL.0b013e318248df18
27. Herlenius G, Wilczek HE, Larsson M et al. Ten years of international experience with liver transplantation for familial amyloidotic polyneuropathy: results from the Familial Amyloidotic Polyneuropathy World Transplant Registry. Transplantation 2004, 77: 64–71. DOI: 10.1097/01.TP.00000092307.98347.C.B
28. Bulawa CE, Connelly S, Devit M et al. Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade. Proc Natl Acad Sci USA 2012; 109: 9629–34. DOI: 10.1073/pnas.1121005109
29. Maurer MS, Grogan DR, Judge DP et al. Tafamidis in transthyretin amyloid cardiomyopathy: Effects on transthyretin stabilization and clinical outcomes. Circ Heart Fail 2015; 8 (3): 519–26. DOI: 10.1161/CIRCHEARTFAILURE.113.000890
30. Berk JL, Dyck PJ, Obici L et al. The diflunisal trial: update on study drug tolerance and disease progression. Amyloid 2011; 18 (Suppl. 1): 191–2. DOI: 10.3109/13506129.2011.574354073
31. Sekijima Y, Dendle MA, Kelly JW. Orally administered diflunisal stabilizes transthyretin against dissociation required for amyloidogenesis. Amyloid 2006; 13: 236–49. DOI: 10.1080/13506120600960882
32. Tojo K, Sekijima Y, Kelly JW et al. Diflunisal stabilizes familial amyloid polyneuropathy-associated transthyretin variant tetramers in serum against dissociation required for amyloidogenesis. Neurosci Res 2006; 56: 441–9. DOI: 10.1016/j.neures.2006.08.014.
33. Johnson SM, Connelly S, Fearns C et al. The transthyretin amyloidoses: from delineating the molecular mechanism of aggregation linked to pathology to a regulatory-agency-approved drug. J Mol Biol 2012; 421 (2–3): 185–203. DOI: 10.1016/j.jmb.2011.12.060
34. Adams D, Cauquil C, Labeyrie C et al. TTR kinetic stabilizers and TTR gene silencing: a new era in therapy for familial amyloidotic polyneuropathies. Expert Opin Pharmacother 2016; 17 (6): 791–802. DOI: 10.1517/14656566.2016.1145664

А.Я.Гудкова*1,2, А.В.Амелин1, А.Н.Крутиков1,2, А.А.Полякова1,2, Н.В.Сафьянова1, М.М.Шавловский2,3, К.А.Хмельницкая1, Д.Э.Коржевский3, Е.Н.Семернин1

1 ФГБОУ ВО «Первый Санкт-Петербургский медицинский университет им. акад. И.П.Павлова» Минздрава России. 197022, Россия, Санкт-Петербург, ул. Льва Толстого, д. 6/8;
2 ФГБУ «Национальный медицинский исследовательский центр им. В.А.Алмазова» Минздрава России. 197341, Россия, Санкт-Петербург, ул. Аккуратова, д. 2;
3 ФГБНУ «Институт экспериментальной медицины». 197376, Россия, Санкт-Петербург, ул. Академика Павлова, д. 12
*alexagood-1954@mail.ru

________________________________________________

A.Ya.Gudkova*1,2, A.V.Amelin1, A.N.Krutikov1,2, A.A.Poliakova1,2, N.V.Safyanova1, M.M.Shavlovskiy2,3, K.A.Khmelnitskaya1, D.E.Korzhevsky3, E.N.Semernin1

1 I.P.Pavlov First Saint Petersburg State Medical University of the Ministry of Health of the Russian Federation. 197022, Russian Federation, Saint Petersburg, ul. L'va Tolstogo, d. 6/8;
2 Almazov National Medical Research Centre of the Ministry of Health of the Russian Federation. 197341, Russian Federation, Saint Petersburg, ul. Akkuratova, d. 2;
3 Institute of Experimental Medicine. 197376, Russian Federation, Saint Petersburg, ul. Akademika Pavlova, d. 12
*alexagood-1954@mail.ru