Familial Mediterranean Fever in the First Two Years of Life: A Unique Phenotype of Disease in Evolution

Journal of Pediatrics

Volumn 156, Issue 6, 2010, Pages 985-989

  Padeh, Shai ^a,c   Livneh, Avi ^b,c   Pras, Elon ^a   Shinar, Yael ^b,c   Lidar, Merav ^b,c   Feld, Olga ^b,c   Berkun, Yackov ^a,c  

^a SHEBA MEDICAL CENTER   (Israel)

^b HELLER INSTITUTE OF MEDICAL RESEARCH   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

COLCHICINE; METHIONINE; VALINE;

ADOLESCENT; ARTICLE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; CYTOPENIA; DELAYED DIAGNOSIS; DIARRHEA; DRUG RESPONSE; DRUG TOLERABILITY; DRUG WITHDRAWAL; FAMILIAL MEDITERRANEAN FEVER; FEMALE; FEVER; GENE MUTATION; HOMOZYGOTE; HUMAN; JEW; MAJOR CLINICAL STUDY; MALE; MYOPATHY; NEUROPATHY; ONSET AGE; PERITONITIS; PLEURISY; PRIORITY JOURNAL;

ADOLESCENT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; FAMILIAL MEDITERRANEAN FEVER; FEMALE; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE;

EID: 77952293290     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2009.12.010     Document Type: Article

References (21)

1. Pras M. Familial Mediterranean fever: from the clinical syndrome to the cloning of the pyrin gene. Scand J Rheumatol 27 (1998) 92-97
2. La Regina M., Nucera G., Diaco M., Procopio A., Gasbarrini G., Notarnicola C., et al. Familial Mediterranean fever is no longer a rare disease in Italy. Eur J Hum Genet 12 (2004) 85-86
3. Konstantopoulos K., Kanta A., Deltas C., Atamian V., Mavrogianni D., Tzioufas A.G., et al. Familial Mediterranean fever associated pyrin mutations in Greece. Ann Rheum Dis 62 (2003) 479-481
4. Consortium The International FMF. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 90 (1997) 797-807
5. Consortium The French FMF. A candidate gene for familial Mediterranean fever. Nat Genet 17 (1997) 25-31
6. Centola M., Wood G., Frucht D.M., Galon J., Aringer M., Farrell C., et al. The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood 95 (2000) 3223-3231
7. Diaz A., Hu C., Kastner D.L., Schaner P., Reginato A.M., Richards N., et al. Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts: a prominent splice isoform lacks the C-terminal domain that is highly mutated in familial Mediterranean fever. Arthritis Rheum 50 (2004) 3679-3689
8. Chae J.J., Wood G., Richard K., Jaffe H., Colburn N.T., Masters S.L., et al. Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. Mol Cell 11 (2003) 591-604
9. Livneh A., Langevitz P., Zemer D., Zaks N., Kees S., Lidar T., et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 40 (1997) 1879-1885
10. Padeh S., Shinar Y., Pras E., Zemer D., Langevitz P., Pras M., et al. Clinical and diagnostic value of genetic testing in 216 Israeli children with familial Mediterranean fever. J Rheumatol 30 (2003) 185-190
11. Brik R., Shinawi M., Kepten I., Berant M., and Gershoni-Baruch R. Familial Mediterranean fever: clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients. Pediatrics 103 (1999) e70
12. Shinar Y., Livneh A., Langevitz P., Zaks N., Aksentijevich I., Koziol D.E., et al. Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever. J Rheumatol 27 (2000) 1703-1707
13. Padeh S., and Berkun Y. Auto-inflammatory fever syndromes. Rheum Dis Clin North Am 33 (2007) 585-623
14. Sohar E., Gafhi J., Pras M., and Heller H. Familial Mediterranean fever: a survey of 470 cases and review of the literature. Am J Med 43 (1967) 227-253
15. Ertekin V., Selimoǧlu M.A., and Pirim I. Familial Mediterranean fever in a childhood population in eastern Turkey. Pediatr Int 47 (2005) 640-644
16. Livneh A., Langevitz P., Shinar Y., Zaks N., Kastner D.L., Pras M., et al. MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever. Amyloid 6 (1999) 1-6
17. Ozen S., Aktay N., Lainka E., Duzova A., Bakkaloglu A., and Kallinich T. Disease severity in children and adolescents with familial Mediterranean fever: a comparative study to explore environmental effects on a monogenic disease. Ann Rheum Dis 68 (2009) 246-248
18. Kone Paut I., Dubuc M., Sportouch J., Minodier P., Gamier J.M., and Touitou I. Phenotype-genotype correlation in 91 patients with familial Mediterranean fever reveals a high frequency of mucocutaneous features. Rheumatology 39 (2000) 1275-1279
19. Pras E., Livneh A., Balow Jr. J.E., Kastner D.L., Pras M., and Langevitz P. Clinical differences between North African and Iraqi Jews with familial Mediterranean fever. Am Med Genet 75 (1998) 216-219
20. Mor A., Shinar Y., Zaks N., Langevitz P., Chetrit A., Shtrasburg S., et al. Evaluation of disease severity in familial Mediterranean fever. Semin Arthritis Rheum 35 (2005) 57-64
21. Oner A., Erdogan O., Demircin G., Bulbul M., and Memis L. Efficacy of colchicine therapy in amyloid nephropathy of familial Mediterranean fever. Pediatr Nephrol 18 (2003) 521-526