АУТОВОСПАЛИТЕЛЬНЫЕ ЗАБОЛЕВАНИЯ: ОБЩЕЕ ПОНЯТИЕ, МЕХАНИЗМЫ РАЗВИТИЯ, КЛИНИЧЕСКАЯ КАРТИНА, ПОДХОДЫ К ЛЕЧЕНИЮ

В последние годы в медицинской научной литературе появилось новое понятие «системные аутовоспалительные заболевания». В отличие от аутоиммунных заболеваний в инициации аутовоспалительных болезней играют роль, главным образом, генетически детерминированные реакции иммунитета и воспаления, а не механизмы, связанные с антигениндуцированным синтезом антител или активацией Т-лимфоцитов. Группа аутовоспалительных заболеваний включает в себя семейные периодические лихорадки (периодическую болезнь, синдром Макла–Уэллса и др.), наиболее частым осложнением которых является вторичный АА-амилоидоз. Молекулярно-генетические исследования показали, что важнейшим механизмом аутовоспаления является нейтрофильное воспаление, ассоциированное с гиперпродукцией интерлейкина-1. Ведущим пусковым механизмом нейтрофильного воспаления является образование макромолекулярного комплекса – криопириновой инфламмасомы, которая имеет важное значение в инициации воспаления не только при семейных периодических лихорадках, но и при ряде широко распространенных воспалительных заболеваний (подагра, ХОБЛ и др.). В этой связи криопириновая инфламмасома может рассматриваться как один из универсальных механизмов нейтрофильного воспаления. Хронические аутовоспалительные заболевания создают персистирующий воспалительный фон и способствуют активации иммунных реакций с возможным развитием классических аутоиммунных заболеваний, что наглядно показывают представленные клинические наблюдения.

1. Siegal S. Benign paroxysmal peritonitis. Ann Int Med 1945; 23: 1

2. Виноградова ОМ, Периодическая болезнь. «Медицина», М., 1973

3. Lidar, M. & Livneh, A. Familial Mediterranean fever: clinical, molecular and management advancements. Neth J Med 2007; 65: 318–324

4. Рамеев ВВ, Симонян АХ, Саркисова ИА, Рамеева АС, Козловская ЛВ. Амилоидоз и наследственные периодические аутовоспалительные заболевания. Клиницист 2008; (2):6–15

5. International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cel 1997; 90:797

6. Schaner P, Richards N, Wadhwa A et al. Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states. Nat Genet 2001; 27:318–321

7. Centola M, Aksentijevich I, Kastner DL. The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases. Hum Mol Genet 1998;7(10):1581–1588

8. Bertin J, DiStefano PS. The PYRIN domain: a novel motif found in apoptosis and inflammation proteins. Cell Death Differ 2000;7:1273–1274

9. Martinon F, Hofmann K, Tschopp J. The pyrin domain: a possible member of the death domain-fold family implicated in apoptosis and inflammation. Curr Biol 2001;11:R118–120

10. Pawlowski K, Pio F, Chu Z et al. PAAD – a new protein domain associated with apoptosis, cancer and autoimmune diseases. Trends Biochem Sci 2001; 26:85–87

11. Staub E, Dahl E, Rosenthal A. The DAPIN family: a novel domain links apoptotic and interferon response proteins. Trends Biochem Sci 2001;26:83–85

12. Chae JJ, Wood G, Masters SL et al. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1 production. Proc Natl Acad Sci USA 2006;103(26):9982–9987

13. Chae JJ, Komarow HD, Cheng J et al. Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. Mol Cell 2003;11:591–604

14. Muckle, T. J. Wells M. Urticaria, deafness and amyloidosis: a new heredo-familial syndrome. Quart J Med 1962; 31: 235–248

15. Козловская ЛВ, Рамеев ВВ, Янушкевич ТН и др. АА-амилоидоз при синдроме Макла-Уэллса. Тер арх 2002; (6):62–72

16. Hoffman HM, Mueller JL, Broide DH et al. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001;29:301–305

17. Aksentijevich I, Nowak M, Mallah M et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum 2002;46:3340–3348

18. Feldmann J, Prieur AM, Quartier P et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet 2002;71:198–203

19. Kastner DL. Hereditary periodic fever syndromes. Hematology Am Soc Hematol Educ Program 2005;74–81

20. Kuemmerle-Deschner JB, Tyrrell PN, Koetter I, Wittkowski H, Bialdowski A, Tzaribachev N, Lohse P, Koitchev A, Deuter Ch, Foell D, Benseler SM. Efficacy of Anakinra therapy in Pediatric and Adult Patients with the autoinflammatory Muckle-Wells Syndrome. Arthritis and Rheumatism 2011; 63, 3: 840–849

21. Cantarini L, Rigante D, Brizi MG et al. Clinical and biochemical landmarks in systemic autoinflammatory diseases. Annals of Medicine 2011, Early Online, 1–10

22. Hoffman HM, Rosengren S, Boyle DL et al. Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. Lancet 2004;364:1779–1785

23. Hawkins PN, Lachmann HJ, McDermott MF. Interleukin-1- receptor antagonist in the Muckle-Wells syndrome. N Engl J Med 2003; 348:2583–2584

24. Hawkins PN, Lachmann HJ, Aganna E, McDermott MF. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum 2004;50:607–612

25. Dailey NJ, Aksentijevich I, Chae JJ et al. Interleukin-1 receptor antagonist anakinra in the treatment of neonatal onset multisystem inflammatory disease [abstract]. Arthritis Rheum 2004;50:440

26. Grateau G. Clinical and genetic aspects of the hereditary periodic fever syndromes. Rheumatology (Oxford) 2004;43:410–415

27. Drenth JP, Cuisset L, Grateau G et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet 1999;22:178–181

28. Houten SM, Kuis W, Duran M et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 1999;22:175–177

29. Cuisset L, Drenth JP, Simon A et al. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur J Hum Genet 2001;9:260–266

30. Houten SM, Koster J, Romeijn GJ et al. Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. Eur J Hum Genet 2001;9:253–259

31. Houten SM, Frenkel J, Rijkers GT et al. Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. Hum Mol Genet 2002;11:3115–3124

32. International Study Group for Behcet’s Disease. Criteria for diagnosis of Behcet’s disease. Lancet 1990;335:1078–1080

33. Atagunduz P, Ergun T, Direskeneli H. MEFV mutations are increased in Behcet’s disease and associated with vascular involvement. Clin Exp Rheumatol 2003;21(Suppl 30):S35–37

34. Schwartz T, Langevitz P, Zemer D, Gazit E, Pras M, Livneh A. Behcet’s disease in familial Mediterranean fever: characterization of the association between the two diseases. Semin Arthritis Rheum 2000;29:286–295

35. Verity DH, Wallace GR, Vaughan RW, Stanford MR. Behcet’s disease: from Hippocrates to the third Millennium. Br J Ophthalmol 2003; 87:1175–1183

36. Dilşen N, Koniçe M, Aral О el al Behcet’s disease associated with amyloidosis in Turkey and in the world. Ann Rheum Dis 1988;47:157–163

37. Melikoglu M, Altiparmak MR, Fresko I et al. A reappraisal of amyloidosis in Behcet’s syndrome. Rheumatology 2001;40:212–215

38. Zouboulis CC. Epidemiology of Adamantiadcs-Bchcct’s disease. Ann Med Interne 1999;150:488–498

39. Calamia KT, Wilson FC, Icen M, Crowson CS, Gabriel SE, Kremers HM. Epidemiology and Clinical Characteristics of Behcet’s Disease in the US: A Population-Based Study. Arthritis Rheum 2009; 61(5): 600–604

40. Obici L, Manno C, Muda AO et al. First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome. Arthritis Rheum 2004; 50:2966–2969

41. Lachmann HJ, Goodman HJ, Andrews PA, Gallagher H, Marsh J, Breuer S, Rowczenio DM, Bybee A, Hawkins PN. AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: a report of two cases. Arthritis Rheum 2006; 54(6):2010–2014

42. Moriguchi M, Terai C, Koseki Y, Uesato M, Nakajima A, Inada S, Nishinarite M, Uchida S, Nakajima A, Kim SY, Chen CL, Kamatani N. Influence of genotypes at SAA1 and SAA2 loci on the development and the length of latent period of secondary AA-amyloidosis in patients with rheumatoid arthritis. Hum Genet 1999; 105: 360–366

43. Moriguchi M, Terai C, Kaneko H, Koseki Y, Kajiyama H, Uesato M, Inada S, Kamatani N. A novel single-nucleotide polymorphism at the 5-lanking region of SAA1 associated with risk or type AA amyloidosis secondary to rheumatoid arthritis. Arthritis Rheum 2001; 44: 1266–1272

44. Yamada T, Okuda Y, Takasugi K, Wang L, Marks D, M.D. Benson and B.Kluve-Beckerman. An allele of serum amyloid A1 associated with amyloidosis in both Japanese and Caucasians. Amyloid: J Protein Folding Disord 2003; 10: 7–11

45. Booth DR, Booth SE, Gillimore JD, Hawkins PN, Pepys MB. SAA1 alleles as risk factors in reactive systemic amyloidosis. Amyloid: Int J Exp Clin Invest 1998; 5: 262–265

46. Cazeneuve C, Ajrapetyan H, Papin S, Roudot-Thoraval F, Genevieve D, Mndjoyan E, Papazian M, Sarkisian A, Babloyan A, Boissier B, Duguesnoy P, Kouyoumdjian J-C, Girodon-Boulandet E, Grateau G, Sarkisian T, Amselem S. Identification of MEFVindependent modifying genetic factors for familial Mediterranean fever. Am J Hum Genet 2000; 67: 1136–1143

47. Medlej-Hashim M, Delague V, Chouery E, Salem N, Rawashdeh M, Lefranc G, Loiselet J, Megarbane A. Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects. BMC Med Genet 2004; 5: 4

48. Gershoni-Baruch R, Brik R, Zacks N, Shinawi M, Lidar M, Livneh A. The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever. Arthritis Rheum 2003; 48: 1149–1155

49. Bakkaloglu A, Duzova A, Ozen S, Balci B, Besbas N, Topaloglu R, Ozaltin F, Yilmaz E. Influence of serum amyloid A (SAA1) and SAA2 gene polymorphisms on renal amyloidosis, and on SAA/ C-reactive protein values in patients with familial Mediterranean fever in the Turkish population. J Rheumatol 2004; 31: 1139–1142

50. Akar N, Hasipek M, Akar E, Ekim M, Yalcinkaya F, Cakar N. Serum amyloid A1 and tumor necrosis factor-alpha alleles in Turkish familial Mediterranean fever patients with and without amyloidosis. Amyloid: J Protein Folding Disord 2003; 10: 12–16

51. Amyloid Proteins. The Beta Sheet Conformation and Disease. Edit. J.D.Sipe, 2005 WILEY-VCH

52. Gillmore JD, Lovat LB, Persey MR, Pepys MB, Hawkins PN. Amyloid load and clinical outcome in AA amyloidosis in relation to circulating concentration of serum amyloid A protein. Lancet 2001; 358: 24–29

53. Henderson C, Goldbach-Mansky R. Monogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesis. Curr Opin Rheumatol 2010; 22(5): 567–578