Phenotype-genotype correlation and treatment outcomes in mevalonate kinase deficiency: A large Turkish cohort - PubMed
4 hours ago
- #IL-1 antagonists
- #Mevalonate kinase deficiency
- #Genotype-phenotype correlation
- Study on 107 Turkish pediatric patients with mevalonate kinase deficiency (MKD) to assess clinical spectrum, genotype-phenotype correlations, and treatment responses.
- Median age at symptom onset was 7 months, and diagnosis was at 71 months. Common symptoms included fever (98.1%), abdominal pain (86%), and arthralgia (69.2%).
- Four genotype groups identified: homozygous V377I (42%), compound heterozygous V377I/non-V377I (26.2%), two non-V377I alleles (14%), and single heterozygous mutation (17.8%).
- No significant differences in demographic, clinical, or treatment outcomes between genotype groups.
- IL-1 antagonists were primary treatments: anakinra had varied responses (no response 13.1%, partial 15.9%, complete 12.1%), canakinumab showed better efficacy (complete response 52.3%).
- Findings highlight MKD's complexity, with disease expression and treatment outcomes influenced by factors beyond genotype, including heterozygous individuals showing disease phenotype.