AB0727 STUDY OF MEFV GENE MUTATIONS IN A COHORT OF CHILDREN: A SINGLE CENTER

Background: Familial Mediterranean fever (FMF) is a monogenic autoinflammatory hereditary disease characterized by recurrent episodes of with sterile peritonitis, pleural inflammation, arthritis, and/or erysipelas-like rash. Among all variants the MEFV gene, according to literature, five pathogenic ones have been identified, which in 75% cases lead development typical clinical presentation: V726A, M694V, M694I, M680I, and E148Q. them, M694V variant most common occurs patients FMF 20-65% cases. At same time, approximately 10 20% meeting diagnostic criteria for do not gene. Despite fact that molecular genetic, pathogenetic features studied detailed, diagnosis remains difficult due lack clear correlation between patient’s genetic data. Objectives: To analyze obtained data Methods: The study included 103 who are mainly observed at rheumatology department National Medical Research Center Children’s Health Ministry Russian Federation Moscow. All underwent analysis gene using Sanger sequencing further statistical processing obtained. Results: Of patients, was found 93 (90.3%), (9.7%) - pathogenicity revealed contradictory. MEFV, presentation fits 37 (39.6%). 11 (29.7%) them had mutation M694V. Out children met diagnosis, 15 (40.5%) homozygous MEVF, 22 (59.5%) two mutations heterozygous state. 57 presentation, specifical departments rheumatology, cardiology nephrology, 13 on an outpatient observation, 6 time over 18 years old. 8 (14%) a, (38.6%) department, among them: • Enthesitis-related arthritis 2 (9%); Systemic juvenile (59%); Oligoarthritis 5 (23%); Polyarthritis- (9%). Conclusion: Analysis showed combination However, manifests itself only variant, but also heterozygous. presence one mutation, generally, does FMF. References: [1]Konstantopoulos, A. Kanta, C. Deltas, V. Atamian, D. Mavrogianni, A.G. Tzioufas, I. Kollainis, K. Ritis, H.M. Moutsopoulos, associated pyrin Greece Ann. Rheum. Dis., 62 (2003), pp. 479-481, 10.1136/ard.62.5.479. [2]Gershoni-Baruch R, Brik Zacks N, Shinawi M, Lidar Livneh A: contribution genotypes SAA1 loci amyloidosis severity Fever,Seminars Arthritis Rheumatism,Volume 43, Issue 3, 2013, Pages 387-391familial fever. Rheum 2003; 48: 1149–1155. [3]Booty MG, Chae JJ, Masters SL, et al. single mutation: where second hit? 2009; 60:185. Disclosure Interests: None declared