Focus
FEBBRI PERIODICHE
Sindromi febbrili periodiche in Pediatria
RECURRENT FEBRILE SYNDROMES IN CHILDHOOD
ALBERTO TOMMASINI, ELENA NERI
Clinica Pediatrica dell’Università di Trieste, IRCCS “Burlo Garofolo”, Trieste
Aprile 2001 - pagg. 225 -238
Abstract
A literature review is presented covering the recent advances regarding molecular bases
and clinical features of recurrent febrile syndromes in childhood. These include hypoimmune
(cyclic neutropenia, benign neutropenia) and hyperimmune (mediterranean fever, iper-
IgD syndrome, TNFR-associated fever, PFAPA) forms. Cases of cyclic neutropenia, benign
neutropenia, mediterranean fever, iper-IgD syndrome and PFAPA are reported.
Suggerite dall'AI
Classificazione MeSH
Bibliografia
1. Drenth JPH, van der Meer JWM. Periodic
fever enter the era of molecular diagnosis.
BMJ 2000;320:1091.
2. McDermott MF, Aksentijevich I, Gabon J, et al. Germline mutations in the extracellular domains of the 155 Da TNFR1 define a family of dominantly inherited in autoinflammatory syndromes. Cell 1999;97:133.
3. Tommasini A, Lepore L. Febbri ricorrenti con alti indici di flogosi (e risposta a monodose di cortisone). Medico e Bambino 1999; 18:506.
4. Bachner RL, Miller DR. Cyclic neutropenia. In: Blood Diseases of infancy and childhood. VII edizione, Mosby ed, 1955: 563.
5. Bachner RL, Miller DR. Autoimmune neutropenia. In: Blood Diseases of infancy and childhood. VII edizione, Mosby ed, 1955:572.
6. Ben Chetrit E, Lary M. Familial Mediterranean Fever. Lancet 1998;357:661.
7. Centola M, Aksentijevich I, Kastner DL. The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases. Human Mol Genet 1998;7: 1981.
8. Shohat M, Magal N, Shohat T, et al. Phenotype- genotype correlation in familial mediterranean fever: evidence for an association between Met694 Val and amyloidosis. Eur J Hum Genet 1999;7:287.
9. Tekin M, Yalcinkala F, Tilmen N, et al. Clinical laboratory and molecular characteristics of children with Familial Mediterranean Fever-associated vasculitis. Acta Paediatr 2000; 89:177
10. Mache CJ, Gorlup U, Fische-Godhisian N, et al. Autosomal dominant familial mediterranean fever-like syndrome. Europ J Pediatr 1996;155:787.
11. Mulley J, Saar K, Hewitt G, et al. Gene localization for an autosomal dominant familial periodic fever to 12p13. Am J Hum Genet 1998;62:884.
12. Cuissert L, Drenth JP, Berthelot JM, et al. Genotype linkage of the Muckle-Wells syndrome to chromosome 1q44. Amer J Hum Genet 1999;1053:9.
13. Drenth PHJ, Haagsma GI, van der Meer JWM and the International IgD Group. Hyperimmunoglobulinemia D and periodic fever syndrome: the clinical spectrum in a series of 50 patients. Medicine 1994;73:133.
14. Houten SM, Kuis W, Duran M, et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulin D and periodic fever syndrome. Nat Genet 1999;22:175.
15. McDermott EM, Ogunkolade BW, Mc- Dermott EM, et al. Linkage of familial Hibernian fever to chromosome 12p13. Amer J Hum Genet 1998;62:1446.
16. Marshall GS, Edwards KM, Butler J, et al. Syndrome of periodic fever, pharyngitis and aphtous stomatitis. Pediatr Infect Dis J 1987; 110:43.
17. Padesh S, Brezniak N, Zemer D, et al. Periodic fever, aphtous stomatitis, pharyngitis and adenopathy syndrome. Clinical characteristic and outcome. J Pediatr 1999;35:98.
18. Thomas KT, Feder HM jr, Lawton AR, Edwards KM. Periodic fever syndrome i n children. J Pediatr 1999;135:15.
19. Panizon F. Effetto della singola dose di corticosteroidi sulla febbre nella tonsillite da Adenovirus. Medico e Bambino 2001;20:259.
20. Feder HM jr. Cimetidine treatment for periodic fever associated with aphtous stomatitis, pharyngitis, and cervical adenitis. Pediatr Infect Dis J 1992;11:36.
21. Pillet P, Ansoborlo S, Carrère A, et al. (P)FAPA syndrome: intérêt de la cimétidine. Arch Pediatr 2000;7:54.
2. McDermott MF, Aksentijevich I, Gabon J, et al. Germline mutations in the extracellular domains of the 155 Da TNFR1 define a family of dominantly inherited in autoinflammatory syndromes. Cell 1999;97:133.
3. Tommasini A, Lepore L. Febbri ricorrenti con alti indici di flogosi (e risposta a monodose di cortisone). Medico e Bambino 1999; 18:506.
4. Bachner RL, Miller DR. Cyclic neutropenia. In: Blood Diseases of infancy and childhood. VII edizione, Mosby ed, 1955: 563.
5. Bachner RL, Miller DR. Autoimmune neutropenia. In: Blood Diseases of infancy and childhood. VII edizione, Mosby ed, 1955:572.
6. Ben Chetrit E, Lary M. Familial Mediterranean Fever. Lancet 1998;357:661.
7. Centola M, Aksentijevich I, Kastner DL. The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases. Human Mol Genet 1998;7: 1981.
8. Shohat M, Magal N, Shohat T, et al. Phenotype- genotype correlation in familial mediterranean fever: evidence for an association between Met694 Val and amyloidosis. Eur J Hum Genet 1999;7:287.
9. Tekin M, Yalcinkala F, Tilmen N, et al. Clinical laboratory and molecular characteristics of children with Familial Mediterranean Fever-associated vasculitis. Acta Paediatr 2000; 89:177
10. Mache CJ, Gorlup U, Fische-Godhisian N, et al. Autosomal dominant familial mediterranean fever-like syndrome. Europ J Pediatr 1996;155:787.
11. Mulley J, Saar K, Hewitt G, et al. Gene localization for an autosomal dominant familial periodic fever to 12p13. Am J Hum Genet 1998;62:884.
12. Cuissert L, Drenth JP, Berthelot JM, et al. Genotype linkage of the Muckle-Wells syndrome to chromosome 1q44. Amer J Hum Genet 1999;1053:9.
13. Drenth PHJ, Haagsma GI, van der Meer JWM and the International IgD Group. Hyperimmunoglobulinemia D and periodic fever syndrome: the clinical spectrum in a series of 50 patients. Medicine 1994;73:133.
14. Houten SM, Kuis W, Duran M, et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulin D and periodic fever syndrome. Nat Genet 1999;22:175.
15. McDermott EM, Ogunkolade BW, Mc- Dermott EM, et al. Linkage of familial Hibernian fever to chromosome 12p13. Amer J Hum Genet 1998;62:1446.
16. Marshall GS, Edwards KM, Butler J, et al. Syndrome of periodic fever, pharyngitis and aphtous stomatitis. Pediatr Infect Dis J 1987; 110:43.
17. Padesh S, Brezniak N, Zemer D, et al. Periodic fever, aphtous stomatitis, pharyngitis and adenopathy syndrome. Clinical characteristic and outcome. J Pediatr 1999;35:98.
18. Thomas KT, Feder HM jr, Lawton AR, Edwards KM. Periodic fever syndrome i n children. J Pediatr 1999;135:15.
19. Panizon F. Effetto della singola dose di corticosteroidi sulla febbre nella tonsillite da Adenovirus. Medico e Bambino 2001;20:259.
20. Feder HM jr. Cimetidine treatment for periodic fever associated with aphtous stomatitis, pharyngitis, and cervical adenitis. Pediatr Infect Dis J 1992;11:36.
21. Pillet P, Ansoborlo S, Carrère A, et al. (P)FAPA syndrome: intérêt de la cimétidine. Arch Pediatr 2000;7:54.