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Genetic Analysis of Familial Mediterranean Fever among Egyptian Patients
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作者 Marwa A. Besar Adel Abd El Salam +4 位作者 Asmaa F. Enein samar tharwat radwan Fatma Hamdy Fouad Abeer Saad Ali El Zekred Nehed Abdallah Hassan 《Open Journal of Immunology》 CAS 2022年第4期137-147,共11页
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 r... 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). 展开更多
关键词 Familial Mediterranean Fever (FMF) MEFV Gene Mutation (M680I M694V M694I and V726A) FEVER Abdominal Pain AUTOINFLAMMATORY
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