Evaluation of genotype and phenotype characteristics of childhood period familial mediterranean fever patients in Malatya and surrounding provinces

Objective: Familial Mediterranean fever (AAA) is an autosomal recessive disorder characterized by recurrent, self-limiting fever and serositis, which is common in Mediterranean-based communities. This disease is also widespread in Turkey's geography. In our work, Malatya and the surrounding areas, children with AAA diagnosis are evaluated and informed contribution is made. Materials and Methods: Our study was planned as a retrospective descriptive study. A total of 427 patients who attended the Child Health and Disease Nephrology and Rheumatology outpatient clinic between 2006 and 2015, clinically diagnosed with AAA, started colchicine treatment, and followed up, participated in the study. IBM SPSS version 22.0 was used in the analysis. Data were presented as mean ± standard deviation and / or median (min-max). The Mann-Whitney U test was used in two independent group comparisons, and the Kruskal-Wallis test was used in two independent group comparisons. The Pearson Chi-Square or Yates Continuity Correction test was used to determine if there was a relationship between categorical data types . A value of p <0.05 was considered statistically significant. IBM SPSS version 22.0 was used in the analysis. Findings: 207 of the patients were female (48.5%), 220 were male (51.5%). The mean age of diagnosis was 7.728 ± 3.728 years, and the age of onset of complaints was 5.770 ± 3.583 years. Our patients had 1.977 ± 1.823 years of delayed diagnosis. The most common complaints were abdominal pain (95.1%), fever (85.4%) and arthralgia (58.7%). Arthritis (10.5%) and myalgia (10.1%) were observed. The most common complication was urinary tract infection. Henoch-Schönlein purpura (HSP) was seen in two patients with celiac disease and ankylosing spondylitis in 4 patients. Among the mutant alleles, M694V (26.9%), E148Q (24%), M680I (8%), V726A (4.6%), P369S (3.6%), A744S (3.1%) and R202Q (1.8%) mutations were detected. In our study, 216 (51%) heterozygotes, 71 (17%) homozygotes and 99 (23%) patients had combined mutations and 9.6% had no mutations. The most common homozygous mutation was M694V (57.7%), the most common heterozygous mutation was E148Q (38.4%), and the most common heterozygote mutation was M694V / M680I (17.1%). There were 407 patients (95.3%) who met the diagnostic criteria of Yalçınkaya et al. And 20 patients (4.7%) who failed to meet the diagnostic criteria. There were 411 patients (96%) who met the wire Hashomer diagnostic criteria and 16 patients (4%) who did not meet the diagnostic criteria. Conclusion: AAA is an inherited disease with autoinflammatory attacks. Children with unexplained and recurrent episodes of fever can be diagnosed with ethnicity, family history, accompanying symptoms, and simple laboratory tests. We believe that it is important for patients with AAA to know how the appropriate clinical approach will be implemented, especially by the family physicians who will take an important role in this regard, in terms of providing early diagnosis and treatment of patients, and the quality of life of the patients will be further increased.