الفهرس 
o Chapter 1 : Familial Mediterranean FeverOnly 14 pages are availabe for public view
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Abstract
The aim of the present study was not only to review clinical and demographic features of child-onset familial Mediterranean fever (FMF) patients but also to investigate whether there is a phenotype–genotype correlation in the same patient population. And also to detect genetic variation in MEFV in a cohort of patients clinically suspected to have FMF randomly selected from Zagazig university children hospital.The study population consisted of 53 children clinically suspected to have FMF (30 boys, 23 girls) M:F = 1.3:1. According to the genetic results children has been divided into two groups; homozygous and heterozygous.Homozygous group included 38 children; (55.3%) males and (44.7%) females, while heterozygous group included 15 children; (60%) males and (40%) females.
A positive family history was given in (66%) of our patients for FMF.Regarding homozygous group the mean age at onset and diagnosis was 3.9 ± 2.11 and 7.5 ± 3.61 years, respectively, while the mean time interval between onset and diagnosis was 3.06 ± 2.7 years. In the heterozygous group the mean age of onset and diagnosis 2 ± 1.26 and 4.78 ± 1.72 years, respectively, while the mean time interval between onset and diagnosis was 2.9 ± 1.69 years.The most common clinical feature was abdominal pain (90.6%), followed by fever (79.2%), arthritis (24.5%), chest pain (15.1%), erysipelas-like erythema (13.2%) and (3.7%) underwent appendectomy All the 53 symptomatic patients received between 0.5 and 2 mg/day of colchicines, among them, (81.1%) showed response to colchicine with no response in (18.9%).According to the result of gene mutation, the FMF patients studied into two groups homozygous and heterozygous groups.Homozygosity for M680I, M694V, M694I & V726A, was found in 34%, 17%, 24.5% & 22.6%, respectively.In our study there was a significant difference between the two groups as regard age, but no significant difference as regard sex. Abdominal pain and fever showed predominance in both groups. Family history was higher in heterozygous patients.Amyloidosis was detected in one male patient 3 years old with disease duration 1 year, positive consanguinity, duration of the attacks was 7 days every10 days, with history of typical attacks and good response to colchicines. The genotype of the patient was heterozygosity for M694V, M694I & V726A and homozygosity for M680I. He was phenotypically definite and genytically homozygous.This variation in clinical picture in FMF patients with positive gene mutation was in agreement with many reports but differ from each other in the frequency of each clinical picture , this difference may be due to the difference in racial group and geographic region , and may be due to the difference in predominant gene mutation in different population.