Fiebre mediterránea familiar
Una afección frecuentemente subdiagnosticada
Palabras clave:
FIEBRE MEDITERRÁNEA FAMILIAR
Resumen
La fiebre mediterránea familiar (FMF) es una enfermedad inflamatoria crónica, hereditaria, de herencia autosómica recesiva, causada por mutaciones en el gene denominado MEFV. Se caracteriza por episodios recurrentes de fiebre e inflamación multisistémica. Se trata de una enfermedad frecuente en descendientes de poblaciones mediterráneas, del norte de África, Israel, Turquía, Armenia y países árabes. Se presenta el caso de un paciente, descendiente de armenios, con semiología y evolución características. Se analiza el diagnóstico, pronóstico, tratamiento y el asesoramiento genético correspondiente.
Citas
1) Kastner D. Familial Mediterranean fever: the genetics of inflammation. Hosp Pract (Minneap) 1998; 33 (4): 131-4, 139-40, 143-6.
2) Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, et al. Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum Mutat 2004; 24(3): 194-8.
3) Gershoni-Baruch R, Brik R, Shinawi M, Livneh A. The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever. Eur J Hum Genet 2002; 10(2): 145-9.
4) Schaner P, Richards N, Wadhwa A, Aksentijevich I, Kastner D, Tucker P, et al. Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states. Nat Genet 2001; 27(3): 318-21.
5) Notarnicola C, Didelot MN, Seguret F, Demaille J, Touitou I. Enhanced cytokine mRNA levels in attack-free patients with familial Mediterranean fever. Genes Immun 2002; 3(1): 43-5.
6) Mansfield E, Chae JJ, Komarow HD, Brotz TM, Frucht DM, Aksentijevich I, et al. The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood 2001; 98(3): 851-9.
7) Papin S, Duquesnoy P, Cazeneuve C, Pantel J, Coppey-Moisan M, Dargemont C, et al. Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus. Hum Mol Genet 2000; 9(20): 3001-9.
8) Eisenberg S, Aksentijevich I, Deng Z, Kastner DL, Matzner Y. Diagnosis of familial Mediterranean fever by a molecular genetics method. Ann Intern Med 1998; 129(7): 539-42.
9) Grateau G, Pecheux C, Cazeneuve C, Cattan D, Dervichian M, Goossens M. Clinical versus genetic diagnosis of familial Mediterranean fever. Q J M 2000; 93 (4): 223-9.
10) Stewart L, Tolmie J, Galea P, Touitou I. Familial Mediterranean Fever in a cold climate: read The Lancet. Lancet 2000; 356 (9248): 2154.
11) Canzani R, Fischer TM, Álvarez-Martínez J. Fiebre Mediterránea Familiar. Día Méd Urug 1965; XXXII (388): 597-605.
12) Touitou I, Notarnicola C, Grandemange S. Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?. Am J Pharmacogenomics 2004; 4(2): 109-18.
13) Horcada Rubio ML, Delgado Beltran C, Armas Ramírez C. Autoinflammatory disorders: a new concept in hereditary periodic fever syndromes. An Med Interna 2004; 21(3): 143-7.
14) Drenth JP, van-der-Meer JW. Hereditary periodic fever. N Engl J Med 2001; 345 (24): 1748-57.
15) Drenth JP, van Der Meer JW. Periodic fevers enter the era of molecular diagnosis. BMJ 2000; 320: 1091-2.
16) Simon A, Drewe E, van-der-Meer JW, Powell RJ, Kelley RI, Stalenhoef AF, et al. Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin Pharmacol Ther 2004; 75(5): 476-83.
17) Cuisset L, Drenth JP, Berthelot JM, Meyrier A, Vaudour G, Watts RA, et al. Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44. Am J Hum Genet 1999; 65(4): 1054-9.
18) Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001; 29(3): 301-5.
19) Shohat M. Familial Mediterranean Fever. In: GeneReviews. Medical Genetics Information Resource (database online). Seattle: University of Washington, 2004. Obtenideo de: http://www.genetests.org/query?dz=fmf (consulta 20/7/2005).
2) Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, et al. Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum Mutat 2004; 24(3): 194-8.
3) Gershoni-Baruch R, Brik R, Shinawi M, Livneh A. The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever. Eur J Hum Genet 2002; 10(2): 145-9.
4) Schaner P, Richards N, Wadhwa A, Aksentijevich I, Kastner D, Tucker P, et al. Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states. Nat Genet 2001; 27(3): 318-21.
5) Notarnicola C, Didelot MN, Seguret F, Demaille J, Touitou I. Enhanced cytokine mRNA levels in attack-free patients with familial Mediterranean fever. Genes Immun 2002; 3(1): 43-5.
6) Mansfield E, Chae JJ, Komarow HD, Brotz TM, Frucht DM, Aksentijevich I, et al. The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood 2001; 98(3): 851-9.
7) Papin S, Duquesnoy P, Cazeneuve C, Pantel J, Coppey-Moisan M, Dargemont C, et al. Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus. Hum Mol Genet 2000; 9(20): 3001-9.
8) Eisenberg S, Aksentijevich I, Deng Z, Kastner DL, Matzner Y. Diagnosis of familial Mediterranean fever by a molecular genetics method. Ann Intern Med 1998; 129(7): 539-42.
9) Grateau G, Pecheux C, Cazeneuve C, Cattan D, Dervichian M, Goossens M. Clinical versus genetic diagnosis of familial Mediterranean fever. Q J M 2000; 93 (4): 223-9.
10) Stewart L, Tolmie J, Galea P, Touitou I. Familial Mediterranean Fever in a cold climate: read The Lancet. Lancet 2000; 356 (9248): 2154.
11) Canzani R, Fischer TM, Álvarez-Martínez J. Fiebre Mediterránea Familiar. Día Méd Urug 1965; XXXII (388): 597-605.
12) Touitou I, Notarnicola C, Grandemange S. Identifying mutations in autoinflammatory diseases: towards novel genetic tests and therapies?. Am J Pharmacogenomics 2004; 4(2): 109-18.
13) Horcada Rubio ML, Delgado Beltran C, Armas Ramírez C. Autoinflammatory disorders: a new concept in hereditary periodic fever syndromes. An Med Interna 2004; 21(3): 143-7.
14) Drenth JP, van-der-Meer JW. Hereditary periodic fever. N Engl J Med 2001; 345 (24): 1748-57.
15) Drenth JP, van Der Meer JW. Periodic fevers enter the era of molecular diagnosis. BMJ 2000; 320: 1091-2.
16) Simon A, Drewe E, van-der-Meer JW, Powell RJ, Kelley RI, Stalenhoef AF, et al. Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin Pharmacol Ther 2004; 75(5): 476-83.
17) Cuisset L, Drenth JP, Berthelot JM, Meyrier A, Vaudour G, Watts RA, et al. Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44. Am J Hum Genet 1999; 65(4): 1054-9.
18) Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001; 29(3): 301-5.
19) Shohat M. Familial Mediterranean Fever. In: GeneReviews. Medical Genetics Information Resource (database online). Seattle: University of Washington, 2004. Obtenideo de: http://www.genetests.org/query?dz=fmf (consulta 20/7/2005).
Publicado
2006-09-30
Cómo citar
1.
Mañé Garzón F, Raggio V. Fiebre mediterránea familiar. Rev. Méd. Urug. [Internet]. 30 de septiembre de 2006 [citado 25 de noviembre de 2024];22(3):231-5. Disponible en: http://www2.rmu.org.uy/ojsrmu311/index.php/rmu/article/view/698
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Casos Clínicos
