MEFV Gene Mutation Analysis in Children with Immunoglobulin A Vasculitis and Its Effects on Clinical Manifestations: A Big Series from a Tertiary Center

Abstract

Aim: Immunoglobulin A vasculitis (IgAV) is the most common vasculitis of childhood, but its pathogenesis is largely unknown, despite evidence pointing to various environmental and genetic factors. We investigated the frequency of MEFV gene mutations that are considered in the pathogenesis and their effect on the clinical features of patients with IgAV. Methods: The study included 244 children diagnosed with IgAV, who underwent MEFV gene analyses. We recorded the demographic and clinical characteristics of the patients, along with their laboratory results. We grouped the patients based on the presence of MEFV gene mutations and MEFV variants. Results: At least one MEFV mutation was detected in 89 (36.5%) patients, with E148Q being the most common (n=31, 34.8%). Age at diagnosis and the frequency of hematuria and recurrence were significantly greater among patients with MEFV mutations (p=0.043, p=0.008, and p=0.009, respectively). Serum IgA levels were significantly higher in patients with the M694V mutation (p=0.040). Conclusion: The presence of MEFV mutations, particularly E148Q and M694V, could be associated with the development and clinical course of IgA vasculitis.

Keywords

• children
• hematuria
• iga vasculitis
• mefv gene
• recurrence