Akademik Veri Yönetim Sistemi
TURKISH JOURNAL OF PEDIATRICS, cilt.67, sa.4, ss.483-492, 2025 (SCI-Expanded, Scopus, TRDizin)
Background. We aimed to document childhood onset mevalonate kinase deficiency (MKD) and to explore treatment responses and diagnostic challenges in regions endemic to familial Mediterranean fever (FMF). Methods. This retrospective study included patients under 18 years of age, diagnosed with MKD and followed for at least six months at the pediatric rheumatology department of Istanbul University - Cerrahpa & scedil;a Medical Faculty between 2016 and 2024. Results. Of 33 patients, 51.5% were female, with a median age of symptom onset at 6 (2-17.3) months. Eight patients had a history of tonsillectomy, and seven exhibited an underlying exon 10 Mediterranean FeVer (MEFV) gene mutation. The mean diagnostic delay was 67.6 months, which was longer for those with exon 10 mutations (95.0 months) and those with a history of tonsillectomy (99.5 months). The median duration of attacks was 5 (4-7) days. The median frequency of attacks was 12 (10-24) per year. The most prevalent clinical findings observed during these attacks included malaise (87.8%), arthralgia (69.6%), abdominal pain (63.6%), cervical lymphadenopathy (63.6%), diarrhea (54.5%), and maculopapular rash (51.5%). A total of 30 patients (90.9%) identified pre-attack triggers. Among the patients evaluated, 19 (57.5%) were homozygous for V377I, and 7 (21.2%) had V377I biallelic heterozygous mutation in MVK gene. Cytopenia was observed in 18 patients (54.5%) during episodes, including anemia (39.3%), lymphopenia (24.2%), leukopenia (12.1%), and neutropenia (9%). Conclusions. Patients presenting with periodic fever suggestive of FMF who exhibit atypical features should be evaluated for MKD. Further genetic testing should be performed when atypical clinical findings are present, even in those carrying pathogenic variants in exon 10 of the MEFV gene.