الفهرس 
Familial Mediterranean fever
AetiopathogenesisOnly 14 pages are availabe for public view
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Abstract
Familial Mediterranean fever (FMF) is an autosomal recessive hereditary disease that results from point mutations in the Mediterranean Fever (MEFV) gene on the short arm of chromosome 16. To date, more than 310 MEFV sequence variants have been reported including the most common M694V, V726A, M680I and M694I mutations. The wide clinical variability in FMF is partly explained by genetic heterogeneity.
The aim: of this present study was to assess the distribution of MEFV gene mutations in Egyptian patients with FMF, to find certain genotype-phenotype correlation and to relate these findings to disease onset, chronicity and Colchicine administration.
Patients and Methods: This was a cross-sectional study on one hundred fifty eight patients who were diagnosed primarily on clinical basis to have FMF then to be genetically tested for the most common 12 mutations in the MEFV gene in the Medical Genetics Unit; Paediatrics Hospital; Ain Shams University. A blood sample was withdrawn from each FMF patient for Molecular genetics study using DNA isolation followed by PCR amplification followed by hybridization. Urine was tested for Microalbuminuria
Results: The study revealed that E148Q, M694I, V726A, M680I and M694V are the most common mutations of MEFV gene and that M691V, F479L and I692deI mutations did not appear in our study population. The common heterozygous mutations observed in this study were E148Q, M694I and V726A, while, the common homozygous mutations were M694I and M680I and the common compound mutations wereM694I/V726A and M680I/V726A. Abdominal pain, arthralgia and combined presentations are significantly higher in heterozygous than in compound. On the other hand; chest pain was significantly higher in compound than heterozygous of E148Q mutation. The combined and arthralgia phenotyping were significantly high (87% and 74% respectively) in E148Q mutation in comparison to the other mutations. Non-abdominal surgeries are almost 2.75 times more common than that of abdominal surgeries in the 5 common FMF mutations. The most sensitive symptoms that predict the mutations are; vomiting for V726A,
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Weakness, Fatigue & Maylgia for M680I, Arthralgia & Vomiting for E148Q and Vomiting for M694I. Meanwhile, the most sensitive symptoms that predict the zygosity are; FH & Arthralgia for Compound heterozygous, FH & Vomiting for Heterozygous and Arthralgia & Abdominal Pain for Homozygous.
In conclusion: FMF in our study population did show great diversity in terms of age of onset, presentation, severity and response to treatment. This could be attributed to the heterogeneity of the disease; multiplicity of the mutations and that every mutation could present as heterozygous, homozygous and compound heterozygous.