Семейная средиземноморская лихорадка: современные представления
https://doi.org/10.1234/XXXX-XXXX-2016-3-3-11
Аннотация
Об авторе
С. А. Атоян
Центр медицинской гeнетики и первичной охраны здоровья; Ереванский Государственный Медицинский Универстет им. Мхитара Гераци
Россия
Россия
Список литературы
1. Sanchez GAM, de Jesus AA, Goldbach-Mansky R. Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation. Rheum Dis Clin North Am. 2013;39(4):701-734. doi:10.1016/j.rdc.2013.08.001.
2. Kastner DL. Hereditary periodic fever syndromes. Hematology Am Soc Hematol Educ Program. 2005;2005(1):74-81. doi:10.1182/asheducation-2005.1.74.
3. Canna SW, de Jesus AA, Gouni S, et al. An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome. Nat Genet. 2014;46(10):1140-1146. doi:10.1038/ng.3089.
4. Shinar Y, Obici L, Aksentijevich I, T.Sarkisian, et al. Guidelines for the genetic diagnosis of hereditary recurrent fevers. Ann Rheum Dis. 2012;71(10):1599-1605. doi:10.1136/annrheumdis-2011-201271.
5. Livneh A, Ben-Zvi I. Pearls from the Third Israeli Conference on FMF, other autoinflammatory disorders and AA amyloidosis. Isr Med Assoc J. 2014;16(5):269-270. http://www.ncbi.nlm.nih.gov/pubmed/24979827.
6. Touitou I, Galeotti C, Rossi-Semerano L, Hentgen V, Piram M, Kone-Paut I. The expanding spectrum of rare monogenic autoinflammatory diseases. Orphanet J Rare Dis. 2013;8:162. doi:10.1186/1750-1172-8-162.
7. Siegal S. Benign paroxysmal peritonitis. Ann Intern Med. 1945;23(1):1. doi:10.7326/0003-4819-23-1-1.
8. Ben-Chetrit E, Touitou I. Familial mediterranean Fever in the world. Arthritis Rheum. 2009;61(10):1447-1453. doi:10.1002/art.24458.
9. Sarkisian T, Hayrapetyan H, Beglaryan A, Shahsuvaryan G, Yeghiazaryan A. Molecular diagnosis of familial mediterranean fever in armenians. NEW Armen Med J Vol. 1 (2007), N1, pp33-40. 2007;1:33-40.
10. ISSAID - The International Society of Systemic Auto-Inflammatory Diseases. http://fmf.igh.cnrs.fr/ISSAID/index.php. Accessed July 22, 2015.
11. Stoffman N, Magal N, Shohat T, et al. Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups. Eur J Hum Genet 8, 307-310. 2000;(June 1999):307-310.
12. Mattit H, Joma M, Al-Cheikh S, et al. Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation. Eur J Med Genet. 49(6):481-486. doi:10.1016/j.ejmg.2006.03.002.
13. Majeed HA, El-Shanti H, Al-Khateeb MS, Rabaiha ZA. Genotype/phenotype correlations in Arab patients with familial Mediterranean fever. Semin Arthritis Rheum. 2002;31(6):371-376. http://www.ncbi.nlm.nih.gov/pubmed/12077709. Accessed November 24, 2014.
14. Kishida D, Nakamura A, Yazaki M, Tsuchiya-Suzuki A, Matsuda M, Ikeda S-I. Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations. Arthritis Res Ther. 2014;16(5):439. doi:10.1186/s13075-014-0439-7.
15. Pagava K, Rauscher B, Korinteli IA, Shonvadze D, Kriegshauser G, Oberkanins C. Familial Mediterranean fever in Georgia. Georgian Med News. 2014;(230):79-82. http://www.ncbi.nlm.nih.gov/pubmed/24940862. Accessed June 14, 2015.
16. Sarkisian T, Ajrapetian H, Beglarian A, Shahsuvarian G, Egiazarian A. Familial Mediterranean Fever in Armenian population. Georgian Med News. 2008;(156):105-111. http://www.ncbi.nlm.nih.gov/pubmed/18403822. Accessed August 23, 2014.
17. Jeru I, Duquesnoy P, Fernandes-Alnemri T, et al. Mutations in NALP12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci U S A. 2008;105(5):1614-1619. doi:10.1073/pnas.0708616105.
18. Jeru I, Hayrapetyan H, Duquesnoy P, Sarkisian T, Amselem S. PYPAF1 nonsense mutation in a patient with an unusual autoinflammatory syndrome: role of PYPAF1 in inflammation. Arthritis Rheum. 2006;54(2):508-514. doi:10.1002/art.21618.
19. Hentgen V, Grateau G, Stankovic-Stojanovic K, Amselem S, Jeru I. Familial Mediterranean fever in heterozygotes: are we able to accurately diagnose the disease in very young children? Arthritis Rheum. 2013;65(6):1654-1662. doi:10.1002/art.37935.
20. Ben-Zvi I, Herskovizh C, Kukuy O, Kassel Y, Grossman C, Livneh A. Familial Mediterranean fever without MEFV mutations: a case-control study. Orphanet J Rare Dis. 2015;10(1):34. doi:10.1186/s13023-015-0252-7.
21. Ben-Chetrit E, Peleg H, Aamar S, Heyman SN. The spectrum of MEFV clinical presentations-is it familial Mediterranean fever only? Rheumatology (Oxford). 2009;48(11):1455-1459. doi:10.1093/rheumatology/kep296.
22. Rubartelli A. Autoinflammatory diseases. Immunol Lett. 2014;161(2):226-230. doi:10.1016/j.imlet.2013.12.013.
23. Moll M, Kuemmerle-Deschner JB. Inflammasome and cytokine blocking strategies in autoinflammatory disorders. Clin Immunol. 2013;147(3):242-275. doi:10.1016/j.clim.2013.04.008.
24. Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J. NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity. 2004;20(3):319-325. http://www.ncbi.nlm.nih.gov/pubmed/15030775. Accessed January 5, 2016.
25. Mansfield E, Chae JJ, Komarow HD, et al. The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood. 2001;98(3):851-859. http://www.ncbi.nlm.nih.gov/pubmed/11468188. Accessed December 30, 2015.
26. The International FMF Consortium. Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever. Cell. 1997;90(4):797-807. doi:10.1016/S0092-8674(00)80539-5.
27. A candidate gene for familial Mediterranean fever. Nat Genet. 1997;17(1):25-31. doi:10.1038/ng0997-25.
28. The International FMF Consortium. Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever. Cell. 1997;90(4):797-807. doi:10.1016/S0092-8674(00)80539-5.
29. Grandemange S, Aksentijevich I, Jeru I, Gul A, Touitou I. The regulation of MEFV expression and its role in health and familial Mediterranean fever. Genes Immun. 2011;12(7):497-503. doi:10.1038/gene.2011.53.
30. Ben-Zvi I, Livneh A. Chronic inflammation in FMF: markers, risk factors, outcomes and therapy. Nat Rev Rheumatol. 2011;7(2):105-112. doi:10.1038/nrrheum.2010.181.
31. Lachmann HJ, Sengul B, Yavuzsen TU, et al. Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology (Oxford). 2006;45(6):746-750. doi:10.1093/rheumatology/kei279.
32. Lachmann HJ, Sengul B, Yavuzsen TU, et al. Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology (Oxford). 2006;45(6):746-750. doi:10.1093/rheumatology/kei279.
33. Yang R-Z, Lee M-J, Hu H, et al. Acute-phase serum amyloid A: an inflammatory adipokine and potential link between obesity and its metabolic complications. PLoS Med. 2006;3(6):e287. doi:10.1371/journal.pmed.0030287.
34. Yamada T, Okuda Y, Takasugi K, et al. An allele of serum amyloid A1 associated with amyloidosis in both Japanese and Caucasians. Amyloid. 2003;10(1):7-11. http://www.ncbi.nlm.nih.gov/pubmed/12762135. Accessed April 11, 2016.
35. Jeru I, Sarkisian T, Hayrapetyan H, Duquesnoy P, et al. Involvement of the modifier gene of a human Mendelian disorder in a negative selection process. PLoS One. 2009;4(10):e7676. doi:10.1371/journal.pone.0007676.
36. Cazeneuve C, Sarkisian T, Ajrapetyan H, Papin S, et al. Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. Am J Hum Genet. 2000;67(5):1136-1143. doi:10.1016/S0002-9297(07)62944-9.
37. Medlej-Hashim M, Delague V, Chouery E, et al. Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects. BMC Med Genet. 2004;5(1):1. doi:10.1186/1471-2350-5-4.
38. Soriano A, Verecchia E, Afeltra A, Landolfi R, Manna R. IL-1b biological treatment of familial Mediterranean fever. Clin Rev Allergy Immunol. 2013;45(1):117-130. doi:10.1007/s12016-013-8358-y.
39. Caso F, Cantarini L, Lucherini OM, et al. Working the endless puzzle of hereditary autoinflammatory disorders. Mod Rheumatol. 2014;24(3):381-389. doi:10.3109/14397595.2013.843755.
40. Tamir N, Langevitz P, Zemer D, et al. Late-onset familial Mediterranean fever (FMF): a subset with distinct clinical, demographic, and molecular genetic characteristics. Am J Med Genet. 1999;87(1):30-35. http://www.ncbi.nlm.nih.gov/pubmed/10528243. Accessed December 13, 2014.
41. Samuels J, Aksentijevich I, Torosyan Y, et al. Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine (Baltimore). 1998;77(4):268-297. http://www.ncbi.nlm.nih.gov/pubmed/9715731. Accessed September 20, 2014.
42. Ben-Zvi I, Brandt B, Berkun Y, Lidar M, Livneh A. The relative contribution of environmental and genetic factors to phenotypic variation in familial Mediterranean fever (FMF). Gene. 2012;491(2):260-263. doi:10.1016/j.gene.2011.10.005.
43. Berkun Y, Ben-Chetrit E, Klar A, Ben-Chetrit E. Peritoneal adhesions and intestinal obstructions in patients with familial Mediterranean fever - are they more frequent? Semin Arthritis Rheum. 2007;36(5):316-321. doi:10.1016/j.semarthrit.2006.11.002.
44. Г.Г. Амарян, К.Г. Мирзабекян, С.Г. Казарян, А.С. Баблоян. Клинико-генетическая характеристика спаечной кишечной непроходимости при периодической болезни у детей. http://www.medlib.am/articles/Amaryan(HB-09-4).pdf. Accessed March 12, 2014.
45. Karban A, Dagan E, Eliakim R, et al. Prevalence and significance of mutations in the familial Mediterranean fever gene in patients with Crohn’s disease. Genes Immun. 2005;6(2):134-139. doi:10.1038/sj.gene.6364156.
46. Sever F, Sever M, Sanal S, Yalсэn M, Berdeli A. [Familial Mediterranean fever with pulmonary manifestations alone; early diagnosis with genetic analysis]. Tuberk Toraks. 2012;60(4):380-384. http://www.ncbi.nlm.nih.gov/pubmed/23289470. Accessed September 20, 2014.
47. Salah S, Hegazy R, Ammar R, Sheba H, Abdelrahman L. MEFV gene mutations and cardiac phenotype in children with familial Mediterranean fever: a cohort study. Pediatr Rheumatol Online J. 2014;12:5. doi:10.1186/1546-0096-12-5.
48. Altug U, Ensari C, Sayin DB, Ensari A. MEFV gene mutations in Henoch-Schоnlein purpura. Int J Rheum Dis. 2013;16(3):347-351. doi:10.1111/1756-185X.12072.
49. Barzilai A, Langevitz P, Goldberg I, et al. Erysipelas-like erythema of familial Mediterranean fever: Clinicopathologic correlation. J Am Acad Dermatol. 2000;42(5):791-795. doi:10.1067/mjd.2000.103048.
50. Peleg H, Ben-Chetrit E. The kidney in familial Mediterranean fever. J Rheumatol. 2013;40(12):1948-1950. doi:10.3899/jrheum.131135.
51. Gharabaghi MA, Behdadnia A, Gharabaghi MA, Abtahi H. Hypoadrenal syndrome in a patient with amyloidosis secondary to familial Mediterranean fever. BMJ Case Rep. 2013;2013. doi:10.1136/bcr-2012-007991.
52. Jarjour RA, Dodaki R. Arthritis patterns in familial Mediterranean fever patients and association with M694V mutation. Mol Biol Rep. 2011;38(3):2033-2036. doi:10.1007/s11033-010-0326-5.
53. Alayli G, Durmus D, Ozkaya O, Sen HE, Genc G, Kuru O. Frequency of juvenile fibromyalgia syndrome in children with familial Mediterranean fever: effects on depression and quality of life. Clin Exp Rheumatol. 29(6 Suppl 69):S127-S132. http://www.ncbi.nlm.nih.gov/pubmed/22243560. Accessed September 21, 2014.
54. Mattiassich G, Semlitsch G, Nadler K, Rainer F. Familial Mediterranean fever without fever as a cause of monoarthritis. BMJ Case Rep. 2013;2013. doi:10.1136/bcr-2012-008395.
55. Livneh A, Langevitz P, Zemer D, et al. Criteria for the diagnosis of familial mediterranean fever. Arthritis Rheum. 1997;40(10):1879-1885. doi:10.1002/art.1780401023.
56. Demirkaya E, Acikel C, Gul A, et al. Developing a new severity score for FMF. Pediatr Rheumatol. 2013;11(Suppl 1):A81. doi:10.1186/1546-0096-11-S1-A81.
57. Mor A, Shinar Y, Zaks N, et al. Evaluation of disease severity in familial Mediterranean fever. Semin Arthritis Rheum. 2005;35(1):57-64. doi:10.1016/j.semarthrit.2005.02.002.
58. Саркисян ТФ, Айрапетян АС, Шахсуварян ГР Молекулярная диагностика семейной средиземноморской лихорадки ( периодической болезни ) среди армян. Новый армянский медицинский журнал. 2007;1. http://www.ysmu.am/images/stories/downloads/NAMJ/Int%20v1n1/Rus/4.pdf
59. Cazeneuve C, Sarkisian T, Pкcheux C, et al. MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. Am J Hum Genet. 1999;65(1):88-97. doi:10.1086/302459.
60. Ben-Chetrit E, Levy M. Colchicine: 1998 update. Semin Arthritis Rheum. 1998;28(1):48-59. doi:10.1016/S0049-0172(98)80028-0.
61. Lidar M, Yonath H, Shechter N, et al. Incomplete response to colchicine in M694V homozygote FMF patients. Autoimmun Rev. 2012;12(1):72-76. doi:10.1016/j.autrev.2012.07.025.
62. La Regina M, Ben-Chetrit E, Gasparyan AY, Livneh A, Ozdogan H, Manna R. Current trends in colchicine treatment in familial Mediterranean fever. Clin Exp Rheumatol. 31(3 Suppl 77): 41-46. http://www.ncbi.nlm.nih.gov/pubmed/24064013. Accessed January 19, 2015.
63. Unverdi S, Inal S, Ceri M, et al. Is colchicine therapy effective in all patients with secondary amyloidosis? Ren Fail. 2013;35(8):1071-1074. doi:10.3109/0886022X.2013.811345.
64. Estublier C, Stankovic Stojanovic K, Bergerot J-F, Broussolle C, Sиve P. Myositis in a patient with familial Mediterranean fever and spondyloarthritis successfully treated with anakinra. Joint Bone Spine. 2013;80(6):645-649. doi:10.1016/j.jbspin.2013.03.004.
65. Ozkurede VU, Franchi L. Immunology in clinic review series; focus on autoinflammatory diseases: role of inflammasomes in autoinflammatory syndromes. Clin Exp Immunol. 2012;167(3):382-390. doi:10.1111/j.1365-2249.2011.04535.x.
66. Jesus AA, Goldbach-Mansky R. IL-1 blockade in autoinflammatory syndromes. Annu Rev Med. 2014;65:223-244. doi:10.1146/annurev-med-061512-150641.
67. Duzova A, Bakkaloglu A, Besbas N, et al. Role of A-SAA in monitoring subclinical inflammation and in colchicine dosage in familial Mediterranean fever. Clin Exp Rheumatol. 21(4):509-514.
68. Ter Haar NM, Frenkel J. Treatment of hereditary autoinflammatory diseases. Curr Opin Rheumatol. 2014;26(3):252-258. doi:10.1097/BOR.0000000000000059.
Рецензия
Для цитирования:
Атоян С.А. Семейная средиземноморская лихорадка: современные представления. Медицинская генетика. 2016;15(3):3-11. https://doi.org/10.1234/XXXX-XXXX-2016-3-3-11
For citation:
Atoyan S.A. Familial mediterranean fever: current view. Medical Genetics. 2016;15(3):3-11. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-3-3-11
Просмотров: 940
Послать статью по эл. почте 