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Volume 2024, Issue 3
  • ISSN: 0253-8253
  • EISSN: 2227-0426

Abstract

Background: Familial Mediterranean fever (FMF) is an autosomal recessive disease caused by mutations in the MEFV gene and is characterized by recurrent febrile episodes of abdominal pain, chest pain, and joint involvement. We aim to study the clinical and genetic features of FMF in Moroccan children and to establish a phenotype–genotype correlation in this group of patients.

Methods: A total of 35 patients were included in this study. Genetic analysis of exon 10 of the gene was performed in 33 patients. To establish a phenotype–genotype correlation, we statistically compared clinical features between patients with and without the mutation.

Results: Abdominal pain was observed in 82.9% of our patients, followed by fever (74.3%), arthralgia (85.7%), arthritis (42.8%), chest pain (34.3%), and IgA vasculitis (20%). Genetic analysis showed a predominance of the mutation (62.5%), followed by (11.4%) and K695R (5.7%). The presence of the genotype was found to be significantly associated with a high frequency of arthralgia and arthritis. A significant association was found with an earlier age of onset in the absence of the mutation.

Conclusion: Joint involvement is more common in the genotype, and the genetic profile shows different results compared to neighboring countries.

© 2024 Souali, Sakhi, Bousfiha, Bouayed, Licensee HBKU Press.
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2024-11-25
2024-11-21
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/content/journals/10.5339/qmj.2024.41
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Phenotype–genotype correlation in children with familial Mediterranean fever in Morocco
Qatar Medical Journal 2024, 41 (2024); https://doi.org/10.5339/qmj.2024.41
/content/journals/10.5339/qmj.2024.41
/content/journals/10.5339/qmj.2024.41
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  • Article Type: Research Article
Keyword(s): Autoinflammatory diseases, children, familial Mediterranean fever and genetics

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