Turkish Journal of Nephrology
Original Article

Evaluation of Genotypic and Phenotypic Characteristics of Children with Familial Mediterranean Fever in Eastern Turkey

1.

Department of Family Medicine, İnönü University School of Medicine, Malatya, Turkey

2.

Department of Pediatric Nephrology, İnönü University School of Medicine, Malatya, Turkey

Turkish J Nephrol 2019; 28: 68-74
DOI: 10.5152/turkjnephrol.2019.3157
Read: 962 Downloads: 244 Published: 05 February 2019

Objective: Familial Mediterranean fever (FMF) is a hereditary disease. It usually affects countries in the Mediterranean region and is common in Turks. This retrospective study was conducted to evaluate phenotype-genotype characteristics of children with FMF in Malatya district and surrounding areas in eastern Turkey.

Materials and methods: A total of 427 patients who had been diagnosed with clinical FMF between 2006 and 2015 were included in the study.

Results: Of the patients, 207 (48.5%) were female, and 220 (51.5%) were male. The mean age of diagnosis was 7.7±3.7 years, and the age of onset of complaints was 5.7±3.5 years. The delay of diagnosis was 1.9±1.8 years. The most common complaint was abdominal pain (95.1%). The most commonly detected mutant allele was M694V (26.9%) mutation. We detected heterozygous mutations in 203 (52%) patients, homozygous mutations in 71 (18%) patients, compound heterozygous mutations in 81 (22%) patients, and no mutation in 8% of the patients. The most common homozygous mutation was M694V (57.7%), the most common heterozygous mutation was E148Q (38.4%), and the most common compound heterozygous mutation was M694V/M680I (17.1%).

Conclusion: In our study, we found that the frequency of mutations was similar to that of the whole population of Turkey, and the severity of the disease was lower.

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