Семейная средиземноморская лихорадка
DOI:
https://doi.org/10.15574/SP.2015.68.91Аннотация
Семейная средиземноморская лихорадка (ССЛ) — врожденное аутовоспалительное заболевание, которое характеризируется эпизодами лихорадки и воспаления серозних оболочек. Семейная средиземноморская лихорадка чаще всего поражает жителей басейна Средиземного моря — евреев, армян, турок и арабов. Диагностика заболевания достаточно сложная, его течение напоминает аутоиммунные, инфекционные, онкологические и метаболические заболевания. Семейная средиземноморская лихорадка значительно ухудшает качество жизни пациентов и их родителей. Поздняя диагностика ССЛ или ее отсутствие влекут за собой развитие амилоидоза и почечной недостаточности.
Ключевые слова: семейная средиземноморская лихорадка, серозит, воспаление, колхицин.
Библиографические ссылки
Gattorno M, Galeotti C, Caorsi R, Hentgen V. 2012. Autoinflammatory syndromes. EULAR Textbook on Rheumatic Diseases. Bijlsma J. W. J. ed.: 372—89.
Ben-Chetrit E, Levy M. 1998. Familial Mediterranean fever. Lancet. 351: 659—64.
Ben-Chetrit E, Ozdogan H. 2008. Non_response to colchicine in FMF-definition, causes and suggested solutions. Clin Exp Rheumatol. 26: 49—51.
Cantarini L, Rigante D, Brizi MG et al. 2012. Clinical and biochemical landmarks in systemic autoinflammatory diseases. Ann Med. 44: 664—73.
Zemer D, Pras M, Sohar E et al. 1986. Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. N Engl J Med. 314: 1001—1005.
Dinarello CA, Wolff SM, Goldfinger SE et al. 1974. Colchicine therapy for familial mediterranean fever. A double-blind trial. N Engl J Med. 291: 934—7.
Livneh A, Langevitz P, Zemer D et al. 1997. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 40: 1879—1885.
Kotone-Miyahara Y, Takaori-Kondo A, Fukunaga K et al. 2004. E148Q/M694I mutation in 3 Japanese patients with familial Mediterranean fever. Int J Hematol. 79(3): 235—7. http://dx.doi.org/10.1532/IJH97.03119; PMid:15168590
Erken E, Ozer HT, Bozkurt B et al. 2008. Early suppression of familial Mediterranean fever attacks by single medium dose methylprednisolone infusion. Joint Bone Spine. 75: 370—2.
Konstantopoulos K, Kanta A, Deltas C et al. 2003. Familial Mediterranean fever associated pyrin mutations in Greece. Ann Rheum Dis. 62(5): 479—81. http://dx.doi.org/10.1136/ard.62.5.479; PMid:12695165 PMCid:PMC1754548
Samuels J, Aksentijevich I, Torosyan Y et al. 1998. 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). 77: 268—97.
Ben-Chetrit E, Touitou I. 2009. Familial mediterranean Fever in the world. Arthritis Rheum. 61: 1447—53.
La Regina MNG, Diaco M, Procopio A et al. 2004. Familial Mediterranean fever is no longer a rare disease in Italy. Eur J Hum Genet. 12(2): 85—6.
Sohar E, Gafni J, Pras M, Heller H. 1967. Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med. 43: 227—53.
French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet. 1997. 17: 25—31.
Gedalia A. 2000. Familial Mediterranean fever. Nelson Textbook of Pediatrics / Behrman R, Kliegman RM, Jenson HB, eds. 16th ed. Philadelphia, WB Saunders: 727.
Yalcinkaya F, Cakar N, Misirlioglu M et al. 2000. Genotype-phenotype correlation in a large group of Turkish patients with familial mediterranean fever: evidence for mutation_independent amyloidosis. Rheumatology (Oxford). 39: 67—72.
Masters SL, Simon A, Aksentijevich I et al. 2009. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu Rev Immunol. 27(1): 621—68. http://dx.doi.org/10.1146/annurev.immunol.25.022106.141627; PMid:19302049 PMCid:PMC2996236
Meinzer U, Quartier P, Alexandra JF et al. 2011. Interleukin_1 targeting drugs in familial Mediterranean fever: a case series and a review of the literature. Semin Arthritis Rheum. 41: 265—71.
Zemer D, Livneh A, Danon YL et al. 1991. Long_term colchicine treatment in children with familial Mediterranean fever. Arthritis Rheum. 34: 973—7.
Majeed HA, Barakat M. 1989. Familial Mediterranean fever (recurrent hereditary polyserositis) in children: analysis of 88 cases. Eur J Pediatr. 148: 636—41.
Aksentijevich I, Torosyan Y, Samuels J et al. 1999. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet. 64: 949—62.
Onen F. 2006. Familial Mediterranean fever. Rheumatol Int. 26: 489—96.
Ozgocmen S, Akgul O. 2011. Anti-TNF agents in familial Mediterranean fever: report of three cases and review of the literature. Mod Rheumatol. 21: 684—90.
Ozkurede VU, Franchi L. 2012. Immunology in clinic review series; focus on autoinflammatory diseases: role of inflammasomes inautoinflammatory syndromes. Clin Exp Immunol. 167: 382—90.
Toplak N, Dolezalova P, Constantin T et al. 2010. Periodic fever syndromes in Eastern and Central European countries: results of a pediatric multinational survey. Pediatr Rheumatol Online J. 8: 29.
Livneh A, Langevitz P, Zemer D et al. 1996. The changing face of familial Mediterranean fever. Semin Arthritis Rheum. 26: 612—27.
Geha RS, Notarangelo L D, Casanova J-L et al. 2007. The International Union of Immunological Societies (IUIS) Primary Immunodeficiency Diseases (PID) Classification Committee. J Allergy Clin Immunol. 120(4): 776—794.
Touitou I. 2001. The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet. 9: 473—83.
