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Genotype Mutations in Egyptian Children with Familial Mediterranean Fever: Clinical Profile, and Response to
Hala S Talaat1, Maha F Sheba1, Rehab H Mohammed2
1Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt.
Background:
Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder that is characterized by recurrent episodes of fever, peritonitis, pleuritis, pericarditis, and/or arthritis. MEFV is the responsible gene for FMF, of which more than 310 mutations have been reported; M694V, M694I, V726A, E148Q, and M680I mutations are the five most frequent mutations responsible for the majority of FMF patients in the Middle East.
Aim:
To study the genetic background of FMF among Egyptian children to detect the most frequent MEFV mutations and to study the response of colchicine therapy with different gene mutations.
Methods:
This cross-sectional study included 109 pediatric patients already diagnosed clinically with FMF, and were following-up at the Rheumatology Outpatient Clinic, Children's Hospital, Cairo University.
Results:
Out of 109 patients, 95 had positive-MEFV mutation (87.16%), of which the most frequent mutations were E148Q (24/95 patients, 25.26%), V726A (19/95 patients, 20%), M680I (19/95 patients, 20%), M694V (17/95 patients, 17.89%), and M694I (7 patients, 7.37%). A better response to colchicine therapy was noted in E148Q mutation; on the other hand, more severe cases were reported with M694V mutations.
Conclusion:
E148Q, V726A, M680I, M694V and M694I mutations are the most frequent mutations denoting the heterogeneous mutation pattern and the milder form of the disease among Egyptian patients. M694V mutations may indicate a more severe disease score.
Insights
This study identified the most common MEFV gene mutations in Egyptian children with Familial Mediterranean Fever (FMF). Certain mutations, like E148Q, showed a better response to colchicine, while M694V indicated a more severe disease course.
Area of Science:
- Genetics
- Pediatrics
- Rheumatology
Background:
- Familial Mediterranean Fever (FMF) is an autoinflammatory disorder caused by mutations in the MEFV gene.
- Over 310 MEFV mutations are known, with M694V, M694I, V726A, E148Q, and M680I being prevalent in the Middle East.
Purpose of the Study:
- To investigate the genetic profile of FMF in Egyptian children.
- To identify the most frequent MEFV mutations in this population.
- To assess the correlation between specific MEFV mutations and colchicine treatment response.
Main Methods:
- A cross-sectional study involving 109 pediatric FMF patients.
- Clinical diagnosis of FMF was established prior to enrollment.
- Patients were followed at the Cairo University Children's Hospital Rheumatology Outpatient Clinic.
Main Results:
- MEFV mutations were detected in 87.16% (95/109) of the pediatric patients.
- The most frequent mutations were E148Q (25.26%), V726A (20%), M680I (20%), M694V (17.89%), and M694I (7.37%).
- The E148Q mutation was associated with a better response to colchicine, whereas M694V mutations correlated with more severe disease manifestations.
Conclusions:
- The identified MEFV mutations (E148Q, V726A, M680I, M694V, M694I) highlight a heterogeneous genetic landscape in Egyptian FMF patients.
- These findings suggest a potentially milder form of FMF in Egyptian children.
- The M694V mutation may serve as an indicator for a more severe disease phenotype.
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