Demographic, clinic, and genetic characteristics in 149 children diagnosed with familial mediterranean fever
Yükleniyor...
Tarih
2020
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Society of Turaz Bilim
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Familial Mediterranean fever (FMF) is a hereditary disease characterized by recurrent attacks of fever, peritonitis, pleuritis and/or synovitis. In this study, we retrospec-tively evaluated demographic, clinical findings, and genetic features in 149 children (63 male/86 female) with FMF. The mean age of the patients at the time of diagnosis was 6.44 ± 3.21 years. A positive family history for FMF was present in 26%, and 8% of the patients had consanguinity between the parents. The frequency of family history of FMF was found to be higher in patients diagnosed under 10 years of age (p=0.038). Frequencies of the most frequent symptoms observed in cases during ep-isodes were abdominal pain (95%), fever (68%), and arthralgia/arthritis (23%). Genetic analysis revealed that 16% of the patients had homozygous mutations, 32% had heterozygous mutations, and 38% had compound heterozygous mutations, while no mutations were detected in 21 (14%). There were mutant genes in 218 alleles, the most frequently observed were R202Q (48%), M694V (24%), and E148Q (17%). Patients with non-R202Q compound heterozygous mutation had higher frequency of high fever, CRP (C-reactive protein) levels, and fibrinogen levels during the episodes (p=0.006, p=0.001, and p=0.042, respectively). Thus, our study showed that R202Q mutation appeared to have no significant disease-causing and clinical effects, while mutations at exon 10 were associated with increased severity of symptoms as well as elevated levels of acute phase reactants. Further studies with larger FMF populations may shed more light on the role of these mutations in the pathogenesis of FMF.
Açıklama
Anahtar Kelimeler
Familial Mediterranean fever, MEFV gene mutation, Children, Clinical manifestations
Kaynak
Medicine Science
WoS Q Değeri
Scopus Q Değeri
Cilt
9
Sayı
1
Künye
KAZANCİ E. G,KORKMAZ M. F,ARİCA V,KURTOGLU A. I (2020). Demographic, clinic, and genetic characteristics in 149 children diagnosed with familial mediterranean fever. Medicine Science, 9(1), 241 - 245.
