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Se puede definir la fiebre periódica como la aparición deepisodios recurrentes de fiebre cuya duración oscila entreunos pocos días y varias semanas, separados por períodosvariables en los que el paciente se mantiene asintomáticoy que se van repitiendo a lo largo de meses. Estoscuadros son poco frecuentes en la práctica diaria, pero enocasiones plantean importantes problemas de diagnósticodiferencial con infecciones recurrentes, cáncer y enfermedadesdel tejido conjuntivo. El propósito de esta revisiónes agrupar los diferentes cuadros clínicos, descritosde forma dispersa en la bibliografía, para obtener una visiónglobal, y al mismo tiempo pormenorizada.
Se han dividido estos procesos en dos categorías: hereditarios(fiebre mediterránea familiar, síndrome hiperinmunoglobulemiaD [hiper-IgD], síndrome de fiebre periódicaasociado al factor de necrosis tumoral, síndrome deMuckle-Wells y urticaria familiar por frío) y no hereditarios(síndrome de fiebre periódica, faringitis, estomatitisaftosa y adenitis [síndrome PFAPA], neutropenia cíclica,síndrome neurológico, cutáneo y articular crónico de lainfancia [síndrome CINCA], enfermedad de Castleman, sarcoidosisinfantil precoz y síndrome de Blau). Aunque eldiagnóstico es fundamentalmente clínico, en los últimosaños se han realizado numerosos avances en el conocimientode las bases moleculares y genéticas de los procesoshereditarios, que representan una ayuda importantepara establecer el diagnóstico y mejorar el tratamiento.
Palabras clave:
Fiebre periódica
Fiebre mediterránea familiar
Síndrome hiper-IgD
Receptor de factor de necrosis tumoral (TNF)
Síndrome de Muckle-Wells
Síndrome PFAPA
Síndrome CINCA
Neutropenia cíclica
Síndrome de Blau
Enfermedad de Castleman
Periodic fever can be defined as recurrent episodes offever lasting from a few days to several weeks separated bysymptom-free intervals of variable duration, recurringthroughout several months. Although these clinical picturesare unusual in clinical practice, in some instancesthe differential diagnosis with recurrent infections, malignanciesand connective tissue diseases is difficult. Theaim of this review is to group together these different clinicalpictures, which are dispersed in the literature, to obtainan overall and detailed perspective.
We classified these processes in two categories: hereditary(familial Mediterranean fever, hyper-IgD syndrome,tumor necrosis factor-receptor-associated periodic syndrome,Muckle-Wells syndrome and familial cold urticaria)and non-hereditary (periodic fever, aphthousstomatitis, pharyngitis, and adenopathy syndrome [PFAPAsyndrome], cyclic neutropenia, chronic infantile neurologicalcutaneous and articular syndrome [CINCA syndrome],Castleman's disease, early onset sarcoidosis andBlau syndrome). Although diagnosis is essentially clinical,in recent years many advances have been made in theknowledge of the molecular and genetic bases of hereditarydiseases, which may be of considerable help in establishingthe diagnosis and improving treatment.
Key words:
Periodic fever
Familial Mediterranean fever
Hyper-IgD syndrome
TNF receptor
Muckle-Wells syndrome
PFAPA syndrome
CINCA syndrome
Cyclic neutropenia
Blau syndrome
Castleman's disease
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Bibliografía
[1.]
E. Sohar, J. Gafni, M. Pras, H. Heller.
Familial mediterranean fever: a survey of 470 cases and review of the literature.
Am J Med, 43 (1998), pp. 227-253
[2.]
E. Ben-Chetrit, M. Levy.
Familial mediterranean fever.
Lancet, 351 (1998), pp. 659-664
[3.]
S. Kees, P. Langevita, D. Zemer, S. Padeh, M. Pras, A. Livnet.
Atack of pericarditis as manifestation of familial mediterranean fever (FMF).
Qsm, 90 (1997), pp. 643-647
[4.]
G. Estel, I. Vinigraf, J. Barr, D. Zemer.
Acute scrotal pain complicating familial mediterranean fever in children.
Br J Surg, 81 (1994), pp. 894-896
[5.]
G. Grateau.
The relation between familial mediaterranean fever and amyloidosis.
Curr Opin Rheumatol, 12 (2000), pp. 61-64
[6.]
S.K. Ayesh, Y. Azar, B.M. Babior, Y. Maztner.
Inactivation inteleukin 8 by C5a-inactivating proteasa from serosal fluid.
Blood, 81 (1993), pp. 1424-1427
[7.]
E. Pras, I. Aksentijevich, L. Gruberg, J.E. Balow, L. Prosen, M. Dean, et al.
Mapping of a gene causing familial mediterranean fever to the short arm of chromosome 16.
N Engl J Med, 326 (1992), pp. 1509-1513
[8.]
The French FMF consortium A candidate gene for familial mediaterranean fever.
Nat Genet, 17 (1997), pp. 25-31
[9.]
The international FMF consortium Ancient missense mutation in a new member of de RoRet gene family are likely to cause familial mediterranes fever.
Cell, 90 (1997), pp. 797-807
[10.]
M. Centola, G. Wood, M.D. Frucht, J. Galon, M. Aringer, C. Farrel, et al.
The gene for familial mediterranean fever, MEFV, is expressed in early leukocite development and is regulated in response to inflammatory mediator.
Blood, 95 (2000), pp. 3223-3231
[11.]
R. Gershooni-Baruch, I. Kepten, M. Shinawi, R. Brik.
Direct detection of common mutations in familial mediterranean fever gene (MEFV) using naturally ocurring and primer mediated restriction fragmen analysis.
Hum Mutat, 14 (1999), pp. 91
[12.]
M. Shohat, N. Magal, T. Shohat, X. Chen, T. Daan, A. Mimouni, et al.
Phenotype-genotype correlation in familial mediterranean fever: Evidence for an association between met 694 val and amyloidosis.
Eur J Hum Genet, 7 (1999), pp. 287-292
[13.]
J.P. Drenth, J.W. Van der Meer.
Periodic fever enter era of molecular diagnosis. And they are throwing some light on inflammatory mechanins.
Bmj, 320 (2000), pp. 1091-1092
[14.]
D. Zemer, M. Revach, M. Pras, B. Modan, S. Schor, E. Sohar, et al.
A controlled trial of colchicine in preventing atack familial mediterranean fever.
N Engl J Med, 291 (1974), pp. 932-934
[15.]
J.P. Drenht, C.J. Haagima, J.W. Van der Meer.
Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients.
Medicine (Baltimore), 73 (1994), pp. 133-144
[16.]
J.P. Drenht, B.W. Boon, J. Toonstra, J.W. Van der Meer.
Cutaneous manifestation and histology finding in the hyperimmunoglulinemia D syndrome.
Arch Dermatol, 130 (1994), pp. 59-65
[17.]
J.P. Drenht, J.W. Van der Meer.
Hereditary Periodic fever.
N Engl J Med, 345 (2001), pp. 1748-1757
[18.]
I.S. Klasen, J.M. Goertz, C.M. Van de Wiel, J.W. Van der Meer, J.P. Drenht.
Hyper-immunoglobulinemia A in the hyperimmunoglobulinemia D syndrome.
Clin Diagn Lab Immunol, 8 (2001), pp. 58-61
[19.]
J.P. Drenth, C. Cuisset, G. Grateau, C. Vasseur, S.D. Van de Velde-Visser, J.G. De Jong, et al.
Mutation in the gene encoding mevalonato kinase cause hyper-IgD and periodic fever syndrome.
Nat Genet, 22 (1999), pp. 178-181
[20.]
S.M. Houten, R.J. Wanders, H.R. Waterhan.
Biochemical and genetic aspects of mevalonato kinase and its deficiency.
Biochin Biophys Acta, 1529 (2000), pp. 19-32
[21.]
S.E. Rios, Y.K. Cho, H.M. Miziorko.
Characterization of mevalonato kinase V377I, a mutant implicated in defective isoprenoid biosynthesis and HIDS/ periodic fever syndrome.
Biochim Biophys Acta, 1531 (2001), pp. 165-168
[22.]
S.M. Houten, G.J. Romeij, J. Koster, R.G. Gray, P. Darbyshire, G.P. Smit.
Identification and characterization of three novel missense mutations in mevalonato kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.
Hum Mol Genet, 8 (1999), pp. 1523-1528
[23.]
J.P. Drenth, A.G. Vonk, A. Simon, R. Powel, J.W. Van der Meer.
Limited efficacy of thalidomide in the treatment of febrile attacks od the hyper-IgD and periodic fever syndrome: A randomized, double-blind, placebo-controlled trial.
J Pharmacol Exp Ther, 298 (2001), pp. 1225-1226
[24.]
L.M. Williamson, D. Hull, R. Mehta, V.G. Reewers, B.H. Robinson, P.S. Toghill.
Familial Hibernian fever.
QS Med, 51 (1982), pp. 469-480
[25.]
M.F. Mc Dermontt.
Autosomal dominant recurrent fevers: Clinical and genetic aspects.
Rev Rhum Engl Ed, 66 (1999), pp. 484-491
[26.]
M.F. Mc Dermontt, D.M. Smillie, R.J. Powel.
Clinical spectrum of familial hibernian fever: A 14-year follow-up study of the index case and extended family.
Mayo Clinic Proc, 72 (1997), pp. 806-817
[27.]
J.R. Toro, I. Aksentijevich, J. Hull Dean, D.L. Kastner.
Tumor necrosis factor receptor-associated periodic syndrome: A novel syndrome with cutaneous manifestations.
Arch Dermatol, 136 (2000), pp. 1487-1494
[28.]
M.F. McDermontt, I. Aksentijevich, J. Galon, E.M. McDermontt, B.N. Ogunkolade, M. Centola, et al.
Germline mutations in the extracellular domains of the 55 KDa TNF receptor, TNFR1, define a family of dominanthy inherited autoinflammatory syndrome.
Cell, 97 (1999), pp. 133-144
[29.]
J. Mulley, K. Saar, G. Hewitt, F. Ruschendorf, H. Phillips, A. Colley, et al.
Gene localization for an autosomal dominant familial periodic fever to 12p13.
Am J Hum Genet, 62 (1998), pp. 884-889
[30.]
C. Dode, T. Papo, C. Fiechi, C. Pecheux, E. Dion, F. Picard, et al.
novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a frech family.
Arthritis Rheum, 43 (2000), pp. 1535-1542
[31.]
A. Simon, C. Dode, J.W. Van der Meer, J.P. Drenth.
Familial periodic fever and amyloidosis due to a new mutation in the TNFRSF1Agene.
Am J Med, 110 (2001), pp. 313-316
[32.]
J. Galom, I. Aksentijevich, M.F. McDermontt, J.J. O'Shea, D.L. Kastner.
TNFRSF1A mutation and autoinflammtory syndromes.
Curr Opin Immunolol, 12 (2000), pp. 479-486
[33.]
E. Drewe, M.F. McDermontt, R. Powel.
Treatment of nephotic syndrome with etanercept in patient with the tumor necrosis factor receptor-associated periodic syndrome.
N Engl J Med, 3436 (2000), pp. 1044-1045
[34.]
T.J. Muckle, M. Wells.
Urticaria, deafness and amyloidosis: A new heredofamilial syndrome.
Qsm, 31 (1962), pp. 235-248
[35.]
T.J. Serratrice, J. Pouget.
Muckle-Wells syndrome or association of joint pain attack, urticarial outbreaks and sensory deafness.
Rev Rhum Mal Osteartic, 54 (1987), pp. 105-108
[36.]
A. Prost, H. Barriere, F. Legent, S. Cottin, B. Wallez.
Rhumatisme intermittent révélateur d'un syndrome familial arthritis-èruption urticarienne- sudité: Syndrome de Muckle-Wells sans amylose renal.
Rev Rhum Mal Osteartic, 43 (1976), pp. 201-208
[37.]
R.A. Watts, A. Wicholls, D.G. Scott.
The arthropaty of the Muckle-Wells syndrome.
Br J Rheumatol, 33 (1994), pp. 1184-1187
[38.]
F. Legent, A. Prost, B. Beauvillain Cwallez, J.R. Gallois.
Deafness in the Muckle-Wells syndrome.
Ann Otolaryngol Chir Cervicfac, 93 (1976), pp. 355-365
[39.]
K. Funger, E. Flischmann, M. Weber, J. Mann.
Complications in the course od the Muckle-Wells syndrome [abstract].
Dtsch Med Wochenschr, 117 (1992), pp. 256-260
[40.]
H.M. Hoffman, A.A. Wanderer, D.H. Broide.
Familial cold autoin-flammatory syndrome: Phenotype and genotype in autosomic dominant periodic fever.
J Allergy Clin Immunol, 108 (2001), pp. 615-620
[41.]
L. Cuisset, J.P. Drenth, J.M. Berthelot, A. Meyrier, G. Vaudor, R.A. Watts, et al.
Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44.
Am J Hum Genet, 65 (1999), pp. 1054-1059
[42.]
H.M. Hoffman, F.A. Wrigth, D.H. Broide, A.A. Wanderer, R.D. Kolodner.
Identification of a locus on chromosome 1q44 for familial.
Am J Hum Genet, 66 (2000), pp. 1693-1698
[43.]
H.M. Hoffman, J.L. Mueller, D.H. Broide, A.A. Wanderer, R.D. Kolodner.
Mutation of a new gene encoding a putative pyrin- like protein caused familial cold autoinflammatory syndrome and Muckle-Wells syndrome.
Nat Genet, 29 (2001), pp. 301-305
[44.]
G. Messier, A. Meyrier, M. Rainfray, T. Cost, P. Callard.
Overt or ocult renal amyloidosis in the Muckle-Wells syndrome.
Kidney Int, 34 (1988), pp. 566
[45.]
G.S. Marshall, K.M. Edward, J. Butter, A.R. Lawton.
Syndrome of periodic fever. Pharyngitis, and aphtous stomatitis.
J Pediatr, 110 (1987), pp. 43-46
[46.]
K.T. Thomas, H.M. Feder, A.R. Lawton, K.M. Edward.
Periodic fever syndrome in children.
J Pediatr, 135 (1999), pp. 15-21
[47.]
S. Padeh, N. Brezniak, D. Zemer, E. Pras, A. Livneh, P. Langevitz, et al.
Periodic fever, aphtous stomatitis, pharyngitis, and adenopaty syndrome: Clinic characteristics and outcome.
J Pediatr, 135 (1999), pp. 98-101
[48.]
J.T. Ramos Amador, V. Rodríguez Cerrato, A. Bodas Pinedo, M.J. Carnicero Pastor, F. Jiménez Fenández, B. Rubio Gribble.
Fiebre periódica, estomatitis aftosa, faringitis y adenitis cervical: a propósito de 3 casos.
An Esp Pediatr, 52 (2000), pp. 59-61
[49.]
G.S. Mashall, K.M. Edward.
PFAPA syndrome [carta].
Ped infect Dis J, 8 (1989), pp. 658-659
[50.]
S.S. Long.
Syndrome of periodic fever, Aphthous stomatitis, Pharyngitis, and Adenitis (FPAPA). What it isn't. What is itα [editorial].
J Pediatr, 135 (1999), pp. 1-5
[51.]
H.M. Feder Jr.
Cimetidine treatment for periodic fever associated with aphthous stomatitis, pharyngitis and cervical adenitis.
Ped Infect Dis J, 11 (1992), pp. 318-321
[52.]
J.S. Abranson, L.B. Givner, J.N. Thompson.
Possible role of tonsyllectomy and adenoidectomy in children with recurrent fever y tonsylopharyngitis.
Ped Infect Dis J, 8 (1989), pp. 119-120
[53.]
W.I. Lee, M.H. Yang, K.F. Lee, L.C. Chen, S.J. Lin, K.W. Yek, et al.
PFAPA syndrome (Periodic Fever, Aphtous stomatitis, Pharyngitis and Adenitis).
Clin Rheumat, 18 (1999), pp. 207-213
[54.]
A.M. Prieur, C. Griscelli.
Arthropaty with rash, chronic meningitis and mental retardation.
J Pediatr, 99 (1981), pp. 79-83
[55.]
A.M. Prieur, C. Griscelli, F. Lampert, H. Truckenbrodt, M.A. Gugenheim, D.S. Lovell, et al.
A chronic infantil neurological, cutaneous and articular (CINCA) syndrome: A specific entity analized in 30 patients.
Scand J Rheumatol, 66 (1987), pp. 57-68
[56.]
A. Hettenlocher, I.S. Friedden, M. Enrery.
Neonatal onset Multisystem Inflammatory disease.
J Rheumatol, 22 (1995), pp. 1171-1173
[57.]
H. De Boeck, T. Scheerlinck, J. Otten.
The CINCA syndrome: A rare cause de chronic arthritis and multisystem inflammatory disorders.
Acta Orthop Belg, 66 (2000), pp. 433-437
[58.]
C.L. De Cunto, D.I. Liberatore, J.L. San Roman, J.C. Golberg, A.A. Morandi, G. Fedman.
Infantil-onset multisystem inflammatory disease: A diferencial diagnosis of systemic juvenile rheumatoid arthritis.
J Pediatr, 130 (1997), pp. 551-556
[59.]
H. Dolffus, R. Mafner, H.M. Hofman, R.A. Russo, L. Denda, L.D. Gonzalez, et al.
Chronic infantile, neurological, cutaneous and articular/neonatal onset multisystem inflammatory syndrome: ocular manifestation in a recently reconized chronic inflatory disease of childhood.
Arch Ophtalmol, 118 (2000), pp. 1386-1392
[60.]
A.M. Prieur.
A recently reconized chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropaty.
Clin Exp Rheumatol, 19 (2001), pp. 103-106
[61.]
B. Milewskg-Bobula, B. Lipka, K. Roweckg-Trzebick, K. Rostropo-wicz-Denisiewcz, A. Romickg, J.M. Witwicki.
Chronic, infantile, neurologic,cutaneous and articular syndrome (CINCA) in a infant.
Arch Pediatr, 5 (1998), pp. 1094-1097
[62.]
D. López Saldaña, M. Ibánez Rubio, P. Brañas Fernández, F. Rodríguez Serrano, J.C. López Robledillo.
Síndrome CINCA. Un proceso sistémico infrecuente.
An Esp Pediatr, 49 (1998), pp. 68-70
[63.]
R.A. Russo, M.M. Katsicas.
Chronic infantile neurological cutaneous and articular syndrome: Two new cases with rare manifestation.
Acta Pediatr, 90 (2001), pp. 1076-1079
[64.]
R.D. Lange.
Cyclic hematopoiesis: Human ciclic neutropenia.
Exp Hematol, 11 (1983), pp. 435-451
[65.]
C.D. Dale, W.P. Hammond.
Ciclic neutropenia: A clinical review.
Bood Rev, 2 (1998), pp. 178-185
[66.]
D.G. Wright, D.C. Dale, A.S. Fauci, S.M. Wolff.
Human ciclic neutropenia: Clinical review and long-term follow-up of patient.
Medicine (Baltimore), 60 (1981), pp. 1-13
[67.]
N. Jacobsen, H. Broxmeyer.
Oscillations of granulocitic and megakcariocitic progenitor cells populations in ciclic neutropenia in man.
Scan J Haematol, 23 (1979), pp. 33
[68.]
A.G. Aprikyan, W.C. Liles, E. Rodger, M. Jonas, E.Y. Chi, D.C. Dale.
Impaired survival of bone marrow hematopoietic progenitor cells in ciclic neutropenia.
Bood, 97 (2001), pp. 147-153
[69.]
M. Howitz, K.F. Benson, R.E. Person, A.G. Aprikyan, D.C. Dale.
Mutations in ELA2, encoding neutrifilic elastasa, define a 21-day biological clock in ciclic haematopoiesis.
Nat Genet, 23 (1999), pp. 433-436
[70.]
A.G. Aprikyan, D.C. Dale.
Mutations in the neutrophil elastasa gene in ciclic and congenital neutropenia.
Curr Opin Immunolol, 13 (2001), pp. 535-538
[71.]
S. Schmitzs, H. Franke, H.E. Wichmann, V. Diehl.
The efect of continuous G-CSF application in human ciclic neutropenia: A model analysis.
Br J Haematol, 90 (1995), pp. 41-47
[72.]
A.K. Shetty, A. Gedalia.
Sarcoidosis: A pediatrics perspective.
Clin Pediatr (Phila), 37 (1988), pp. 707-717
[73.]
R. Contant, B. Leroy, P. Niaudet, C. Loirat, J.P. Dommergues, J.L. Andre, et al.
Renal granulomatous sarcoidosis in childhood: An report of 11 cases and a review of the literature.
Eur J Pediatr, 158 (1999), pp. 154-159
[74.]
S.B. Mallory, A.S. Paller`, B.C. Ginsburg, I.D. McCrossin, R. Abernathy.
Sarcoidosis in children: Diferentation from juvenile rheumatoid arthritis.
Pediatr Dermatol, 47 (1987), pp. 313-319
[76.]
C.B. Lindley, W.A. Godfrey.
Childhood sarcoidosis manifesting as juvenile rheumatoid arthritis.
Pediatrics, 76 (1985), pp. 765-768
[77.]
G.E. Rodriguez, B.C. Shin, R.S. Abernathy, E.L. Kendig Jr.
Serun angiotensin- converting enzime activity in normal children and tose with sarcoidosis.
J Pediatr, 99 (1981), pp. 68-72
[78.]
C.W. Fink, R. Cimaz.
Early onset sarcoidosis not a benign disease.
J Rheumatol, 24 (1997), pp. 174-177
[79.]
E.B. Blau.
Familial granulomatosis arthritis, iritis and rash.
J Pediatr, 107 (1985), pp. 689-693
[80.]
S.A. Raphael, E.B. Blau, W.M. Zhnag, S.M. Hsu.
Analysis of a large kindred with Blau syndrome for HLA, autoimmunity and sarcoidosis.
Am J Dis Child, 147 (1993), pp. 842-848
[81.]
G.M. Pastores, V.V. Michels, G.B. Stickler, A.M. Nelson, D.A. Bovenmyer.
Autosomal dominant granulomatous arthritis, uveitis, skin rash and sinovial cyst.
J Pediatr, 117 (1990), pp. 403-408
[82.]
S.K. Saini, C.D. Rose.
Liver involvement in familial granulomatous arthritis (Blau syndrome).
J Rheumatol, 23 (1996), pp. 396-399
[83.]
S.S. Ting, J. Ziegler, E. Ficher.
Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions.
J Pediatr, 133 (1998), pp. 450-452
[84.]
J. Miller.
Early-onset "sarcoidosis" and "familial granulomatous arthritis (arteritis)": A same disease.
J Pediatr, 109 (1986), pp. 387-388
[85.]
G. Group, H. Kuivaniemi, S. Raphael, L. Ala-Kokko, L. Apotila, C.J. Williams, et al.
Genetic linkage of familial granulomatous inflammatory arthritis, skin rash and uveitis to chromosome 16.
Am J Hum Genet, 59 (1996), pp. 1097-1107
[86.]
C. Micelli-Richard, S. Lesaje, M. Rubojad, A.M. Prieur, S. Manuvrier-Hanu, R. Hafner, et al.
CARD15 mutations in Blau syndrome.
Nat Genet, 29 (2001), pp. 19-20
[87.]
N. Perez, B. Bander-Meunier, C.C. Roy, J.P. Dommergues.
Pediatric Castleman disease: Repot of seven cases and review of the literature.
Eur J Pediatr, 158 (1999), pp. 631-637
[88.]
S.S. Winter, T.A. Howard, A.K. Ritchey, F.G. Keller, R.E. Ware.
Elevated levels of tumor necrosis factor-beta, gamma-interferon and IL-6 mRNA in Castleman disease.
Med Pediatr Oncol, 26 (1996), pp. 48-53
[89.]
E.M. De Kleijn, J.P. Vanderbroucke, J.W. Van der Meer.
Fever of unknown origin (FUO). A prospective multicenter study of 167 patients with FUO, using fixed epidemiologic entry criteria.
Medicine (Baltimore), 76 (1997), pp. 392-400
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