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Val30Met-транстиретиновая амилоидная полиневропатия и кардиомиопатия (обзор литературы и клиническое наблюдение)
Гудкова А.Я., Амелин А.В., Крутиков А.Н. и др. Val30Met-транстиретиновая амилоидная полиневропатия и кардиомиопатия (обзор литературы и клиническое наблюдение). Consilium Medicum. 2017; 19 (12): 109–116. DOI: 10.26442/2075-1753_19.12.109-116
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Gudkova A.Ya., Amelin A.V., Krutikov A.N. et al. Val30Met-transthyrethin amyloid polyneuropathy and cardiomyopathy (review of literature and case report). Consilium Medicum. 2017; 19 (12): 109–116. DOI: 10.26442/2075-1753_19.12.109-116
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Аннотация
Представлен обзор литературы по проблеме Val30Met-транстиретинового амилоидоза. Дано описание клинического течения позднего дебюта Val30Met-транстиретиновой амилоидной полиневропатии и кардиомиопатии. Проанализированы невропатические и кардиомиопатические «маски» транстиретинового амилоидоза. Приведены алгоритмы диагностики и основы современной врачебной тактики при транстиретиновом (mt) амилоидозе.
Ключевые слова: Val30Met-транстиретиновый амилоидоз, кардиомиопатия, полиневропатия, тафамидис.
Ключевые слова: Val30Met-транстиретиновый амилоидоз, кардиомиопатия, полиневропатия, тафамидис.
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An overview of the literature on the problem of Val30Met-ATTR is presented. The clinical course of the late debut of Val30Met-TTR amyloid polyneuropathy and cardiomyopathy is described. Neuropathic and cardiomyopathic "masks" of transthyretin amyloidosis have been analyzed. Algorithms of diagnostics and bases of modern medical tactics for transthyretin (mt) amyloidosis are given.
Key words: Val30Met-transthyretin amyloidosis, cardiomyopathy, polyneuropathy, tafamidis.
Полный текст
Список литературы
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
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
________________________________________________
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
Авторы
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
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
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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
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