الفهرس 
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Abstract
Inflammatory bowel disease (Ulcerative colitis, Crohn’s disease and
Indeterminant colitis) presents with diarrhea, abdominal pain, and rectal
bleeding. FMF is an autosomal recessive disease mainly affecting ethnic groups
living around the Mediterranean basin. It is characterized by acute episodes of
fever, serositis, myalgia and erysipelas-like lesions.
IBD and FMF both have periodic symptoms. Both the MEFV gene and
the NOD2/CARD15 gene are located on chromosome 16. Additionally, genetic
products (pyrin and NOD2/CARD15) are structurally similar and belong to the
same apoptosis regulating protein family and both play key roles in regulation
same apoptosis regulating protein family and both play key roles in regulation
of cytokine processing, and inflammation.
The aim of this study is the detection of the prevalence of MEFV
mutations in 42 unrelated patients having IBD (17 had UC, 15 had CD, and 10
had indeterminate colitis) and following up at the Tropical Pediatric
Gastroenterology Clinic, Abo ElReesh hospital, Cairo University from 2004 to
2011, and in a control group of 33 healthy individuals, and the investigation of
the effect of these mutations, if present, on the phenotypic characteristic of IBD.
The mean age of the patients was 5.1years. The mean follow-up duration
was 3.3. Twelve patients (33.5%) had extra-intestinal manifestations, eleven
(29.7%) of them had FMF mutation.
Thirty seven (88.1%) of the IBD patients and 14 (42.2%) of the
control cases carried the MEFV gene mutation. Among IBD Patients with
detected mutations, 31 (83.8%) patients carried heterozygous mutation, 4
(10.8%) patients had a homozygous mutation and 2 (5.4%) patients carried a
compound heterozygous mutation. All control cases carried heterozygous gene
mutation
.
V6271 mutation was the commonest ; detected in 15 (40.5%) patients
followed by E148Q, M680I, M694V and I692del gene mutations found in
10,9,5,1 patient (27%,24.3%,13.5%,2.7%) respectively. Distribution of the FMF
gene mutations differs among patients with different types of IBD, where
V627A was the commonest in UC, E148Q in CD and M680I and V627A in IC.
The most common gene mutation in control cases was E148Q followed by
V627A.
Two groups were made: Group I IBD patients with positive MEFV
gene mutation and Group II IBD patients with negative gene mutation. No
differences were found between the two groups with respect to gender, disease
type, age at diagnosis, weight and height at the time of diagnosis and at the time
of study, disease location, CD behavior, serum albumin, platelet count,
colectomy and appendicectomy. Although the patients in group I had higher
percentage of extra-intestinal disease manifestations, no statistical significance
between the two groups were found.
The study concluded that MEFV gene mutations were increased
among patients with IBD. The increase was more prominent among
indeterminate colitis patients. No association was found between FMF gene
mutations and IBD phenotypic characteristic. IBD patients living in eastern
Mediterranean countries where FMF is frequent should be screened for FMF.