%0 Journal Article
%T Genetic Analysis of Familial Mediterranean Fever among Egyptian Patients
%A Marwa A. Besar
%A Adel Abd El Salam
%A Asmaa F. Enein
%A Samar Tharwat Radwan
%A Fatma Hamdy Fouad
%A Abeer Saad Ali El Zekred
%A Nehed Abdallah Hassan
%J Open Journal of Immunology
%P 137-147
%@ 2162-4526
%D 2022
%I Scientific Research Publishing
%R 10.4236/oji.2022.124010
%X Background: Familial Mediterranean fever
(FMF) is an autoinflammatory genetic disorder that associated with different
genetic mutations. Frequency of clinical manifestation differs
according to age group, geographic region and ethnic population. Objectives: To study the clinical manifestation of FMF in relation to genotype (M680I,
M694V, M694I and V726A). Result: The main presentation of studied group
was abdominal pain 65.9% (203), followed by fever 60.4% (186) patients.
(Mutation M694V) was the commonest 47.6% (297),
followed by (Mutation V726A) in 32.8% (169%), then (Mutation M6802) in 23.4%
(121) lastly (Mutation M6941) was in 22.1% (114) patients. Fever was highly
associated with mutation (V729A) and it was statistically significant (*p value
0.047). Conclusion: Abdominal pain and fever were the most common
manifestation of FMF patients. (Mutation M694V), (Mutation V726A) were
the most detected mutation. Third age group; fever was associated with genetic
mutation (V726A), abdominal pain with (M6941).
%K Familial Mediterranean Fever (FMF)
%K MEFV Gene
%K Mutation (M680I
%K M694V
%K M694I and V726A)
%K Fever
%K Abdominal Pain
%K Autoinflammatory
%U http://www.scirp.org/journal/PaperInformation.aspx?PaperID=122162