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Erschienen in: Rheumatology International 11/2009

01.09.2009 | Original Paper

The clinical and genetical features of 124 children with Familial Mediterranean fever: experience of a single tertiary center

verfasst von: Ayfer Inal, Mustafa Yilmaz, Seval Guneser Kendirli, Derya Ufuk Altintas, Gulbin Bingol Karakoc

Erschienen in: Rheumatology International | Ausgabe 11/2009

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Abstract

The aim of the present study was to evaluate the clinical features of childhood-onset Familial Mediterranean fever (FMF) patients and to assess the phenotype–genotype correlation. The study included patients with childhood-onset FMF that followed up over a period of 18 years in the Division of Pediatric Allergy and Immunology clinic. Twelve MEFV mutations were investigated in all patients. The patients were classified into four groups according to mutations: 1, M694V homozygote; 2, M694V heterozygote; 3, compound heterozygote for M694V; and 4, other-other gene mutation group. The following parameters were evaluated: gender, age of onset, age at diagnosis, time interval between disease onset and diagnosis, fever, abdominal pain, chest pain, arthralgia, arthritis, myalgia, vomiting, diarrhea, constipation, headache, erysipela-like erythema, protracted febrile myalgia, splenomegaly, hepatomegaly, consanguinity, number of attacks before and after treatment, severity score, response to colchicine treatment. Of the 124 patients included in the study, 105 had at least one MEFV gene mutation. M694V homozygosity was the most common mutation, followed by M694V heterozygotes and M694V—M680I compound heterozygotes. Severity score was found significantly higher in patients with M694V homozygote and compound heterozygote for M694V compared with other groups. The data supported the findings in literature that FMF patients with M694V homozygote and compound heterozygote for M694V gene mutations experience a more severe clinical course.
Literatur
2.
Zurück zum Zitat Barakat MH, Kamik AM, Majeed HW et al (1986) Familial Mediterranean fever (recurrent hereditary polyserositis) in Arabs. A study of 175 patients and review of the literature. Q J Med 60:837–846PubMed Barakat MH, Kamik AM, Majeed HW et al (1986) Familial Mediterranean fever (recurrent hereditary polyserositis) in Arabs. A study of 175 patients and review of the literature. Q J Med 60:837–846PubMed
3.
Zurück zum Zitat Saatci U, Ozen S, Ozdemir S et al (1997) Familial Mediterranean fever in children: report of a large series and discussion of the risk and prognostic factors of amyloidosis. Eur J Pediatr 156:619–623. doi:10.1007/s004310050677 PubMedCrossRef Saatci U, Ozen S, Ozdemir S et al (1997) Familial Mediterranean fever in children: report of a large series and discussion of the risk and prognostic factors of amyloidosis. Eur J Pediatr 156:619–623. doi:10.​1007/​s004310050677 PubMedCrossRef
8.
Zurück zum Zitat Papin S, Cuenin S, Agostini L et al (2007) The SPRY domain of Pyrin, mutated in Familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing. Cell Death Differ 14:1457–1466. doi:10.1038/sj.cdd.4402142 PubMedCrossRef Papin S, Cuenin S, Agostini L et al (2007) The SPRY domain of Pyrin, mutated in Familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing. Cell Death Differ 14:1457–1466. doi:10.​1038/​sj.​cdd.​4402142 PubMedCrossRef
12.
Zurück zum Zitat Sayhan N, Ozdogan H, Kasapcopur O et al (2000) MEFV gene analysis in Familial Mediterranean fever patients from Turkey: prognostic value of M694V homozygous phenotype. Clin Exp Rheumatol 18:286 Abstract Sayhan N, Ozdogan H, Kasapcopur O et al (2000) MEFV gene analysis in Familial Mediterranean fever patients from Turkey: prognostic value of M694V homozygous phenotype. Clin Exp Rheumatol 18:286 Abstract
14.
Zurück zum Zitat Ozen S, Karaaslan Y, Ozdemir O et al (1998) Prevalence of juvenile chronic arthritis and Familial Mediterranean fever in Turkey: a field study. J Rheumatol 25:2445–2449PubMed Ozen S, Karaaslan Y, Ozdemir O et al (1998) Prevalence of juvenile chronic arthritis and Familial Mediterranean fever in Turkey: a field study. J Rheumatol 25:2445–2449PubMed
15.
Zurück zum Zitat Dinc A, Pay S, Turan M et al (2000) Prevalence of Familial Mediterranean fever in young Turkish men. Clin Exp Rheumatol 18:292 abstract Dinc A, Pay S, Turan M et al (2000) Prevalence of Familial Mediterranean fever in young Turkish men. Clin Exp Rheumatol 18:292 abstract
17.
Zurück zum Zitat Sohar E, Gafni J, Pras M (1997) Tel Hashomer key to severity score for FMF. In: Sohar E, Gafni J, Pras M (eds) Proceedings of the first ınternational conference of FMF. Freud Publishing House, Tel Aviv, p 208 Sohar E, Gafni J, Pras M (1997) Tel Hashomer key to severity score for FMF. In: Sohar E, Gafni J, Pras M (eds) Proceedings of the first ınternational conference of FMF. Freud Publishing House, Tel Aviv, p 208
19.
Zurück zum Zitat Kriegshauser G, Weinhausel A, Haas OA et al (2002) Molecular genetic diagnosis of Familial Mediterranean fever by PCR and reverse-hybridization. Clin Exp Rheumatol 20:86 Kriegshauser G, Weinhausel A, Haas OA et al (2002) Molecular genetic diagnosis of Familial Mediterranean fever by PCR and reverse-hybridization. Clin Exp Rheumatol 20:86
20.
Zurück zum Zitat Al-Alami JR, Tayeh MK, Najib DA et al (2003) Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population. Saudi Med J 24:1055–1059PubMed Al-Alami JR, Tayeh MK, Najib DA et al (2003) Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population. Saudi Med J 24:1055–1059PubMed
22.
Zurück zum Zitat Dode C, Pecheux C, Cazeneuve C et al (2000) Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of Familial Mediterranean fever. Am J Med Genet 92:241–246. doi:10.1002/(SICI)1096-8628(20000605)92:4<241::AID-AJMG3>3.0.CO;2-GPubMedCrossRef Dode C, Pecheux C, Cazeneuve C et al (2000) Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of Familial Mediterranean fever. Am J Med Genet 92:241–246. doi:10.1002/(SICI)1096-8628(20000605)92:4<241::AID-AJMG3>3.0.CO;2-GPubMedCrossRef
23.
Zurück zum Zitat Medlej-Hashim M, Rawashdeh M, Chouery E et al (2000) Genetic screening of fourteen mutations in Jordanian Familial Mediterranean fever patients. Hum Mutat 15:384. doi:10.1002/(SICI)1098-1004(200004)15:4<384::AID-HUMU19>3.0.CO;2-UPubMedCrossRef Medlej-Hashim M, Rawashdeh M, Chouery E et al (2000) Genetic screening of fourteen mutations in Jordanian Familial Mediterranean fever patients. Hum Mutat 15:384. doi:10.1002/(SICI)1098-1004(200004)15:4<384::AID-HUMU19>3.0.CO;2-UPubMedCrossRef
25.
26.
Zurück zum Zitat Cazeneuve C, Sarkisian T, Pecheux C et al (1999) MEFV-gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. Am J Hum Genet 65:88–97. doi:10.1086/302459 PubMedCrossRef Cazeneuve C, Sarkisian T, Pecheux C et al (1999) MEFV-gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. Am J Hum Genet 65:88–97. doi:10.​1086/​302459 PubMedCrossRef
27.
Zurück zum Zitat 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
28.
Zurück zum Zitat Akar N, Misiroglu M, Yalcinkaya F et al (2000) MEFV mutations in Turkish patients suffering from Familial Mediterranean fever. Hum Mutat 15:118–119. doi:10.1002/(SICI)1098-1004(200001)15:1>118::AID-HUMU29<3.0.CO;2-5PubMedCrossRef Akar N, Misiroglu M, Yalcinkaya F et al (2000) MEFV mutations in Turkish patients suffering from Familial Mediterranean fever. Hum Mutat 15:118–119. doi:10.1002/(SICI)1098-1004(200001)15:1>118::AID-HUMU29<3.0.CO;2-5PubMedCrossRef
31.
Zurück zum Zitat Sabbagh AS, Ghasham M, Khalek RA et al (2008) MEFV gene mutations spectrum among Lebanese patients referred for Familial Mediterranean fever work-up: experience of a major tertiary care center. Mol Biol Rep 35(3):447–451PubMedCrossRef Sabbagh AS, Ghasham M, Khalek RA et al (2008) MEFV gene mutations spectrum among Lebanese patients referred for Familial Mediterranean fever work-up: experience of a major tertiary care center. Mol Biol Rep 35(3):447–451PubMedCrossRef
32.
Zurück zum Zitat Yilmaz E, Balci B, Kutlay S et al (2003) Analysis of the modifying effects of SAA1, SAA2 and TNF-alpha gene polymorphisms on development of amyloidosis in FMF patients. Turk J Pediatr 45:198–202PubMed Yilmaz E, Balci B, Kutlay S et al (2003) Analysis of the modifying effects of SAA1, SAA2 and TNF-alpha gene polymorphisms on development of amyloidosis in FMF patients. Turk J Pediatr 45:198–202PubMed
37.
Zurück zum Zitat Pras E, Langevitz P, Livneh A (1997) Genotype/phenotype correlation in Familial Mediterranean fever. A preliminary report. In: Sohar E, Gafni J, Pras M et al (eds) Proceedings of the First International Conference on FMF. Freud Publishing House, Tel Aviv, pp 260–264 Pras E, Langevitz P, Livneh A (1997) Genotype/phenotype correlation in Familial Mediterranean fever. A preliminary report. In: Sohar E, Gafni J, Pras M et al (eds) Proceedings of the First International Conference on FMF. Freud Publishing House, Tel Aviv, pp 260–264
38.
Zurück zum Zitat Padeh S, Shinar Y, Pras E (2000) Genotype/phenotypre correlation in 75 pediatric Familial Mediterranean patients. Clin Exp Rheumatol 18:283 abstract Padeh S, Shinar Y, Pras E (2000) Genotype/phenotypre correlation in 75 pediatric Familial Mediterranean patients. Clin Exp Rheumatol 18:283 abstract
39.
Zurück zum Zitat Michet CJ (1990) Epidemiology of vasculitis. Rheum Dis Clin North Am 16:261–268PubMed Michet CJ (1990) Epidemiology of vasculitis. Rheum Dis Clin North Am 16:261–268PubMed
40.
Zurück zum Zitat Rozenbaum M, Rosner I (2004) Severe outcome of juvenile idiopathic arthritis (JIA) associated with Familial Mediterranean fever (FMF). Clin Exp Rheumatol 34:S75–S78 Rozenbaum M, Rosner I (2004) Severe outcome of juvenile idiopathic arthritis (JIA) associated with Familial Mediterranean fever (FMF). Clin Exp Rheumatol 34:S75–S78
Metadaten
Titel
The clinical and genetical features of 124 children with Familial Mediterranean fever: experience of a single tertiary center
verfasst von
Ayfer Inal
Mustafa Yilmaz
Seval Guneser Kendirli
Derya Ufuk Altintas
Gulbin Bingol Karakoc
Publikationsdatum
01.09.2009
Verlag
Springer-Verlag
Erschienen in
Rheumatology International / Ausgabe 11/2009
Print ISSN: 0172-8172
Elektronische ISSN: 1437-160X
DOI
https://doi.org/10.1007/s00296-008-0831-1

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