AI Article Synopsis
- Familial Mediterranean fever (FMF) is a genetic disorder linked to mutations in the MEFV gene, with specific mutations like M694I and E148Q being studied among Japanese patients.
- Research categorized patients based on their MEFV mutations and compared symptoms and cytokine levels across three groups, finding that most individuals with both M694I and E148Q showed typical FMF symptoms.
- Elevated interleukin-18 levels were significantly higher in patients with the M694I and E148Q combination, suggesting E148Q's potential role in FMF development, emphasizing the importance of genetic testing for better family counseling.
Article Abstract
Background: Familial Mediterranean fever (FMF) is an autosomal recessive disease caused by mutations in the MEFV gene. Mutations in exon 10 are associated with typical FMF. Most Japanese patients with typical FMF are compound heterozygotes of M694I in exon 10 and E148Q in exon 2. However, the pathogenic role of E148Q remains controversial.
Methods: We assessed symptoms and serum cytokines among patients with FMF and their family members. They were divided into three subgroups, based on MEFV mutations: individuals carrying M694I and E148Q (group A, n = 14), individuals carrying M694I, but not E148Q (group B, n = 10), and individuals carrying E148Q, but not M694I (group C, n = 11).
Results: All but one individual in group A had typical FMF phenotypes, whereas no individual in groups B and C exhibited any episodes of fever or serositis. The serum levels of interleukin-18 during the afebrile phase were significantly elevated in group A (2,806 ± 2,107 pg/mL), compared to those in groups B (499 ± 369 pg/mL) and C (427 ± 410 pg/mL). No difference in interleukin-6 levels was observed among the three groups.
Conclusions: These findings indicated that E148Q may contribute to disease development of FMF in Japanese patients carrying the heterozygous M694I mutation in MEFV and that genetic testing of both parents would lead to better counseling for their children.
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| http://dx.doi.org/10.1111/ped.14696 | DOI Listing |
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