Problemi non correnti
Febbre familiare mediterranea: descrizione di un caso clinico
MEDITERRANEAN FEVER
FULVIO SELLITTO, ELZIARIO VARRICCHIO
Reparto di Pediatria, Ospedale Fatebenefratelli di Benevento
Aprile 1997 - pagg. 241 -244
Abstract
Mediterranean fever is a rare genetic disorder
characterized by recurrent fever,
poliserositis, abdominal pain and marked
alteration of inflammatory serum indexes.
The Authors describe a case with a long
story of recurrent fever and abdominal
pain who underwent many hospitalizations,
diagnostic procedures and surgical
interventions before the diagnosis of mediterranean
fever was made. The genetic determinants
of the disease, the possibile
pathogenetic mechanisms and the problems
related to differential diagnosis are
briefly discussed.
Parole chiave
Suggerite dall'AI
Classificazione MeSH
Bibliografia
1. Sohar et al: Familiar Mediterranean Fever:
a survey of 470 cases and review of the
litterature. Am J Med 43, 227, 1967.
2. Cook GC: Periodic disease, recurrent polyserositis, familiar mediterranean fever, or simply “FMF”. Quarterly J Med 223, 819, 1986.
3. Pras M et al: La fièvre méditerranéenne familiale. Ann Med Interne 132, No 7, 461, 1981.
4. Harpey JP: La maladie périodique chez l’enfant. Ann Med Interne 132, No 7, 490, 1981.
5. Pras E, Askentijevich I, Gruberger L et al: Mapping of a gene causing familiar mediterranean fever to the short arm of chromosome
16. N Eng J Med 326, 1509, 1992.
6. Shohat M, Livneh A, Zemer D et al: Twin studies in familiar mediterranean fever. Am J Med Genet 44, 179, 1992.
7. Aksentijevich I, Pras E, Gruberg L et al: Refined mapping of the gene causing familiar mediterranean fever, by linkage and homozygosity studies. Am J Hum Genet 53, 451, 1993.
8. Shohat M, Bu X, Shohat T et al: The gene for familiar mediterranean fever in both armenians and non-ashkenazi Jews is linked to the alpha-globin complex on 16p; evidence for locus homogeneity. Am J Hum Genet 51, 1349, 1992.
9. Levy EN, Shen Y, Kupelian A et al: Linkage disequilibrium mapping places the cane causing familiar mediterranean fever close to DD16S246. Am J Hum Genet 58, 523, 1996.
10. Aksentijevich I, Gruberg L, Pras E et al: Evidence for linkage of the gene causing familiar mediterranean fever to chromosome 17q in non-ashkenazy Jewish families: second locus or type I error? Hum Genet 91, 527, 1993.
11. Drenth JP, Mariman EC, Van der Velde- Visser SD et al: Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familiar mediterranean fever. Hum Genet 94, 616, 1994.
12. Glenner GG: Amyloid depositis and amyloidosis. New Engl J Med Vol 32, 23, 1283, 1980.
13. Lagrue G et al: Colchicine et amylose rénale de la maladie périodique. Ann Med Interne 132, No 7, 496, 1981.
14. Barakat MH et al: Metaraminol provocative test: A specific diagnostic test for familiar mediterranean fever. Lancet March 24, 656, 1984.
15. Cattan D et al: Metaraminol provocation test for familiar mediterranean fever. Lancet May 19, 1984.
16. Barakat MH et al: Diagnosis familiar mediterranean fever. Lancet July 7, 41, 1984.
17. Ollier-Hartmann MP et al: Le système du complément dans la maladie périodique. Ann Med Interne 132, No 7, 476, 1981.
18. Chilovi F, Dobrilla G: Familiar mediterranean fever: first report from Italy. Ital J Gastroenterol 17, 275, 1985.
19. Rottoli A et al: Febbre familiare mediterranea. Min Ped 38, 483, 1986.
20. Bartoli E, Branca GF, Satta A: Caso clinico. Federazione medica XXXV, 1, 90, 1982.
21. Locatelli J et al: Due casi di febbre mediterranea familiare in soggetti originari dell’entroterra marchigiano. Min Med 73, 1407, 1982.
22. Zemer D et al: A controlled trial of colchicine in preventing attacks of familiar mediterranean fever. New Engl J Med Oct, 31, 932, 1974.
23. Zemer D et al: Colchicine in the prevention and treatment of the amyloidosis of familiar mediterranean fever. New Engl J Med 314, No 16, 1001, 1986.
24. Charles A, Dinarello et al: Colchicine therapy for familiar mediterranean fever. New Engl J Med Oct, 31, 934, 1974.
25. Eliakim M, Light A: Colchicine-aspirin for recurrent polyserositis (familiar mediterranean fever). Lancet Dec, 8, 1333, 1973.
2. Cook GC: Periodic disease, recurrent polyserositis, familiar mediterranean fever, or simply “FMF”. Quarterly J Med 223, 819, 1986.
3. Pras M et al: La fièvre méditerranéenne familiale. Ann Med Interne 132, No 7, 461, 1981.
4. Harpey JP: La maladie périodique chez l’enfant. Ann Med Interne 132, No 7, 490, 1981.
5. Pras E, Askentijevich I, Gruberger L et al: Mapping of a gene causing familiar mediterranean fever to the short arm of chromosome
16. N Eng J Med 326, 1509, 1992.
6. Shohat M, Livneh A, Zemer D et al: Twin studies in familiar mediterranean fever. Am J Med Genet 44, 179, 1992.
7. Aksentijevich I, Pras E, Gruberg L et al: Refined mapping of the gene causing familiar mediterranean fever, by linkage and homozygosity studies. Am J Hum Genet 53, 451, 1993.
8. Shohat M, Bu X, Shohat T et al: The gene for familiar mediterranean fever in both armenians and non-ashkenazi Jews is linked to the alpha-globin complex on 16p; evidence for locus homogeneity. Am J Hum Genet 51, 1349, 1992.
9. Levy EN, Shen Y, Kupelian A et al: Linkage disequilibrium mapping places the cane causing familiar mediterranean fever close to DD16S246. Am J Hum Genet 58, 523, 1996.
10. Aksentijevich I, Gruberg L, Pras E et al: Evidence for linkage of the gene causing familiar mediterranean fever to chromosome 17q in non-ashkenazy Jewish families: second locus or type I error? Hum Genet 91, 527, 1993.
11. Drenth JP, Mariman EC, Van der Velde- Visser SD et al: Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familiar mediterranean fever. Hum Genet 94, 616, 1994.
12. Glenner GG: Amyloid depositis and amyloidosis. New Engl J Med Vol 32, 23, 1283, 1980.
13. Lagrue G et al: Colchicine et amylose rénale de la maladie périodique. Ann Med Interne 132, No 7, 496, 1981.
14. Barakat MH et al: Metaraminol provocative test: A specific diagnostic test for familiar mediterranean fever. Lancet March 24, 656, 1984.
15. Cattan D et al: Metaraminol provocation test for familiar mediterranean fever. Lancet May 19, 1984.
16. Barakat MH et al: Diagnosis familiar mediterranean fever. Lancet July 7, 41, 1984.
17. Ollier-Hartmann MP et al: Le système du complément dans la maladie périodique. Ann Med Interne 132, No 7, 476, 1981.
18. Chilovi F, Dobrilla G: Familiar mediterranean fever: first report from Italy. Ital J Gastroenterol 17, 275, 1985.
19. Rottoli A et al: Febbre familiare mediterranea. Min Ped 38, 483, 1986.
20. Bartoli E, Branca GF, Satta A: Caso clinico. Federazione medica XXXV, 1, 90, 1982.
21. Locatelli J et al: Due casi di febbre mediterranea familiare in soggetti originari dell’entroterra marchigiano. Min Med 73, 1407, 1982.
22. Zemer D et al: A controlled trial of colchicine in preventing attacks of familiar mediterranean fever. New Engl J Med Oct, 31, 932, 1974.
23. Zemer D et al: Colchicine in the prevention and treatment of the amyloidosis of familiar mediterranean fever. New Engl J Med 314, No 16, 1001, 1986.
24. Charles A, Dinarello et al: Colchicine therapy for familiar mediterranean fever. New Engl J Med Oct, 31, 934, 1974.
25. Eliakim M, Light A: Colchicine-aspirin for recurrent polyserositis (familiar mediterranean fever). Lancet Dec, 8, 1333, 1973.