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Published in: European Journal of Pediatrics 8/2011

01-08-2011 | Original Paper

Application of the new pediatric criteria and Tel Hashomer criteria in heterozygous patients with clinical features of FMF

Authors: Z. Birsin Özçakar, Fatoş Yalçınkaya, Nilgün Çakar, Banu Acar, A. Evren Bilgiç, Nermin Uncu, Nazlı Kara, Mesiha Ekim, Özgür Kasapçopur

Published in: European Journal of Pediatrics | Issue 8/2011

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Abstract

Recently, a new set of criteria was established for the diagnosis of familial Mediterranean fever (FMF) in childhood. The aim of this study is to validate the new criteria set among heterozygous patients with clinical features of FMF. The study group consisted of FMF patients, who had a mutation at a single allele, who were followed in four pediatric nephrology–rheumatology centers in Turkey. Patients were evaluated by the new criteria set and also by the Tel Hashomer criteria. According to the new criteria, the diagnosis of FMF was established by the presence of two or more of five criteria (fever, abdominal pain, chest pain, arthritis, family history of FMF). The study group consisted of 110 FMF (54 male, 56 female) patients. Majority of the patients had heterozygous pM694V mutation (65%). The sensitivity of the new criteria set and that of the Tel Hashomer criteria in our study group were found to be 93% and 100%, respectively. In conclusion, this study designates that sensitivity of the new criteria set is also high in patients who had a mutation at a single allele.
Literature
1.
go back to reference Akar N, Misiroglu M, Yalcinkaya F et al (2000) MEFV mutations in Turkish patients suffering from familial Mediterranean fever. Hum Mutat 15:118–119PubMedCrossRef Akar N, Misiroglu M, Yalcinkaya F et al (2000) MEFV mutations in Turkish patients suffering from familial Mediterranean fever. Hum Mutat 15:118–119PubMedCrossRef
2.
go back to reference Armenian HK (1982) Genetic and environmental factors in etiology of familial paroxysmal polyserositis. An analysis of 150 cases from Lebanon. Trop Geogr Med 34:183–187PubMed Armenian HK (1982) Genetic and environmental factors in etiology of familial paroxysmal polyserositis. An analysis of 150 cases from Lebanon. Trop Geogr Med 34:183–187PubMed
4.
go back to reference Ben-Chetrit E, Urieli-Shoval S, Calko S, Abeliovich D, Matzner Y (2002) Molecular diagnosis of FMF: lessons from a study of 446 unrelated individuals. Clin Exp Rheumatol 20:25–29 Ben-Chetrit E, Urieli-Shoval S, Calko S, Abeliovich D, Matzner Y (2002) Molecular diagnosis of FMF: lessons from a study of 446 unrelated individuals. Clin Exp Rheumatol 20:25–29
5.
go back to reference Jarjour RA (2010) Familial Mediterranean fever in Syrian patients: MEFV gene mutations and genotype–phenotype correlation. Mol Biol Rep 37:1–5PubMedCrossRef Jarjour RA (2010) Familial Mediterranean fever in Syrian patients: MEFV gene mutations and genotype–phenotype correlation. Mol Biol Rep 37:1–5PubMedCrossRef
6.
go back to reference Kondi A, Hentgen V, Piram M, Letierce A, Guillaume-Czitrom S, Koné-Paut I (2010) Validation of the new paediatric criteria for the diagnosis of familial Mediterranean fever: data from a mixed population of 100 children from the French reference centre for auto-inflammatory disorders. Rheumatology 49:2200–2203PubMedCrossRef Kondi A, Hentgen V, Piram M, Letierce A, Guillaume-Czitrom S, Koné-Paut I (2010) Validation of the new paediatric criteria for the diagnosis of familial Mediterranean fever: data from a mixed population of 100 children from the French reference centre for auto-inflammatory disorders. Rheumatology 49:2200–2203PubMedCrossRef
7.
go back to reference La Regina M, Nucera G, Diaco M et al (2003) Familial Mediterranean fever is no longer a rare disease in Italy. Eur J Hum Genet 11:50–56PubMedCrossRef La Regina M, Nucera G, Diaco M et al (2003) Familial Mediterranean fever is no longer a rare disease in Italy. Eur J Hum Genet 11:50–56PubMedCrossRef
8.
go back to reference Livneh A, Langevitz P, Zemer D et al (1997) Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 40:1879–1885PubMedCrossRef Livneh A, Langevitz P, Zemer D et al (1997) Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 40:1879–1885PubMedCrossRef
9.
go back to reference Ozen S (2003) Familial mediterranean fever: revisiting an ancient disease. Eur J Pediatr 162:449–454PubMedCrossRef Ozen S (2003) Familial mediterranean fever: revisiting an ancient disease. Eur J Pediatr 162:449–454PubMedCrossRef
10.
go back to reference Padeh S, Shinar Y, Pras E et al (2003) Clinical and diagnostic value of genetic testing in 216 Israeli children with familial Mediterranean fever. J Rheumatol 30:185–190PubMed Padeh S, Shinar Y, Pras E et al (2003) Clinical and diagnostic value of genetic testing in 216 Israeli children with familial Mediterranean fever. J Rheumatol 30:185–190PubMed
11.
go back to reference Samuels J, Aksentijevich I, Torosyan Y et al (1998) Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine 77:268–297PubMedCrossRef Samuels J, Aksentijevich I, Torosyan Y et al (1998) Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine 77:268–297PubMedCrossRef
12.
go back to reference Shinozaki K, Agematsu K, Yasui K et al (2002) Familial mediterranean fever in two Japanese families. J Rheumatol 29:1324–1325PubMed Shinozaki K, Agematsu K, Yasui K et al (2002) Familial mediterranean fever in two Japanese families. J Rheumatol 29:1324–1325PubMed
13.
go back to reference Sohar E, Gafni J, Pras M et al (1967) FMF: a survey of 470 cases and review of the literature. Am J Med 43:227–253PubMedCrossRef Sohar E, Gafni J, Pras M et al (1967) FMF: a survey of 470 cases and review of the literature. Am J Med 43:227–253PubMedCrossRef
14.
go back to reference Yalçınkaya F, Özen S, Özçakar ZB et al (2009) A new set of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology 48:395–398PubMedCrossRef Yalçınkaya F, Özen S, Özçakar ZB et al (2009) A new set of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology 48:395–398PubMedCrossRef
Metadata
Title
Application of the new pediatric criteria and Tel Hashomer criteria in heterozygous patients with clinical features of FMF
Authors
Z. Birsin Özçakar
Fatoş Yalçınkaya
Nilgün Çakar
Banu Acar
A. Evren Bilgiç
Nermin Uncu
Nazlı Kara
Mesiha Ekim
Özgür Kasapçopur
Publication date
01-08-2011
Publisher
Springer-Verlag
Published in
European Journal of Pediatrics / Issue 8/2011
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-011-1404-y

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