Presentación atípica de un caso de fiebre mediterránea familiar

Revista del Laboratorio Clínico - Tập 2 - Trang 181-184 - 2009
Pedro Sánchez Pellicer1, Noel Hernández Rodriguez1, Miguel Perdiguero Gil2, Marisa Graells Ferrer1, Juan I. Arostegui3, Miguel Trigueros Mateos4, Paula Toro Soto4, Virtudes Chinchilla Chinchilla1
1Servicio de Análisis Clínicos, Hospital General Universitario de Alicante, España
2Servicio de Nefrología, Hospital General Universitario de Alicante, España
3Servicio de Inmunología, Hospital Clínic de Barcelona, España
4Servicio de Anatomía Patológica, Hospital General Universitario de Alicante, España

Tài liệu tham khảo

Merlini, 2003, Molecular mechanisms of amyloidosis, N Engl J Med, 349, 583, 10.1056/NEJMra023144 Lachmann, 2007, Natural history and outcome in systemic AA amyloidosis, N Engl J Med, 356, 2361, 10.1056/NEJMoa070265 McDermott, 1999, Germline mutations in the extracellular domains of the 55kDa TNF Receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes, Cell, 97, 133, 10.1016/S0092-8674(00)80721-7 Aróstegui, 2007, Enfermedades autoinflamatorias sistémicas hereditarias. Síndromes hereditarios de fiebre periódica, Med Clin (Barc), 129, 267, 10.1157/13108350 Aróstegui, 2008, Enfermedades autoinflamatorias sistémicas hereditarias. Parte II: síndromes periódicos asociados a criopirina, granulomatosis sistémicas pediátricas y síndrome PAPA, Med Clin (Barc), 130, 429, 10.1157/13117854 1997, A candidate gene for familial mediterranean fever, Nat Gen, 17, 25, 10.1038/ng0997-25 1997, Ancient missense mutations in a new member of the RoRet gen family are likely to cause familial mediterranean fever, Cell, 90, 797, 10.1016/S0092-8674(00)80539-5 Bernot, 1998, Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever, Hum Mol Genet, 7, 1317, 10.1093/hmg/7.8.1317 Livneh, 1994, Colchicine treatment of AA amyloidosis of familial mediterranean fever: An analysis of factors affecting outcome, Arthritis Rheum, 37, 1804, 10.1002/art.1780371215 Drenth, 2001, Hereditary periodic fever, N Engl J Med, 345, 1748, 10.1056/NEJMra010200 Yepiskoposyan, 2007, Population genetics of familial mediterranen fever: A review, Eur J Hum Genet, 15, 911, 10.1038/sj.ejhg.5201869 Oh, 2008, Neutrophil isolation protocol, J Vis Exp, 23 Gershoni-Baruch, 1999, Direct detection of common mutations in the familial Mediterranean fever gene (MEFV) using naturally occurring and primer mediated restriction fragment analysis, Hum Mutat, 14, 91, 10.1002/(SICI)1098-1004(1999)14:1<91::AID-HUMU22>3.0.CO;2-8 Tchernitchko, 2003, Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations, Clin Chem, 49, 1942, 10.1373/clinchem.2003.021212 Sohar, 1967, Familial mediterranen fever: A survey of 470 cases and review of the literature, Am J Med, 43, 227, 10.1016/0002-9343(67)90167-2 Balci, 2002, MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: A retrospective clinicopathological and molecular study, Nephrol Dial Transplant, 17, 1921, 10.1093/ndt/17.11.1921 Dodé, 2000, Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial mediterranean fever, Am J Med Gen, 92, 241, 10.1002/(SICI)1096-8628(20000605)92:4<241::AID-AJMG3>3.0.CO;2-G Booth D, Gillmore J, Lachmann H, Booth S, Bybee A, Soyturk M, et al. The genetic basis of autosomal dominant familial mediterranean fever. Q J Med 93:217–21. Centola, 2000, The gene for familial mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated is response to inflammatory mediators, Blood, 95, 3223, 10.1182/blood.V95.10.3223 Chae, 2006, The B30.2 domain of pyrin, the familial mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1β production, Proc Natl Acad Sci USA, 103, 9982, 10.1073/pnas.0602081103