High frequency of E148Q sequence variation in children with familial Mediterranean fever in southeast Turkey

Archivos argentinos de pediatría
Unal UlucaCahit Şahin

Abstract

The aim of this study was to investigate the spectrum of Mediterranean fever (MEFV) gene mutations and genotype-phenotype correlation in children with familial Mediterranean fever (FMF) in southeast Turkey. A total of 507 children (274 females) with FMF and MEFV gene mutation(s) were included. A 15-year retrospective evaluation was conducted; parameters analyzed were: age, sex, age at symptoms onset, age at FMF diagnosis, delay between symptoms onset and diagnosis, FMF attack symptoms, and response to colchicine. Disease severity scores were calculated and MEFV mutation analysis was performed via real-time PCR for the 6 most frequent mutations. Children with comorbid diseases or tested negative for MEFV gene mutations were excluded to provide homogeneity. A family history of FMF was found in 60.2% (n=305) of patients. The most common symptoms reported for FMF attacks were abdominal pain (98.0%), fever (93.9%) and arthralgia (47.3%); 75.0% of patients (n=380) were heterozygous, 14.2% were homozygous (n=72) and 10.8% were compound heterozygous (n=55).The following MEFV gene mutation alleles were identified: E148Q (40.1%), M694V (25.9%), V726A (15.8%), R761H (7.4%), M680I (6.8%), and P369S (4.1%). The M694V subgroup had the lowest...Continue Reading

Related Concepts

Related Feeds

Brucellosis

Brucellosis is a bacterial infection caused by members of the genus brucella and remains one of the world's major zoonotic diseases. Discover the latest research on Brucellosis here.

Brucellosis (ASM)

Brucellosis is a bacterial infection caused by members of the genus brucella and remains one of the world's major zoonotic diseases. Discover the latest research on Brucellosis here.