Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Detection of Mediterranean fever gene mutations in Egyptian children with inflammatory bowel disease.
[familial mediterranean fever]
The
aim
of
the
current
study
is
to
investigate
the
prevalence
of
familial
Mediterranean
fever
gene
(
MEFV
)
mutations
in
a
cohort
of
Egyptian
children
with
inflammatory
bowel
disease
(
IBD
)
,
and
to
characterize
familial
Mediterranean
fever
(
FMF
)
-
IBD
patients
,
helping
better
understanding
of
IBD
pathogenesis
.
The
study
enrolled
17
patients
with
ulcerative
colitis
(
UC
)
,
15
with
Crohn
's
disease
(
CD
)
,
10
with
indeterminate
colitis
(
IC
)
and
33
healthy
children
as
controls
.
All
cases
and
controls
were
tested
for
12
FMF
gene
mutations
by
reverse
hybridization
after
multiplex
polymerase
chain
reaction
amplification
and
DNA
sampling
.
Eighty
-
eight
percent
of
the
IBD
patients
carried
the
mutations
,
with
Sequence
variant
V
627
A
being
the
commonest
versus
42
.
4
%
of
controls
.
No
associations
were
found
between
MEFV
gene
mutations
,
and
phenotypic
characteristics
of
IBD
patients
.
IBD
patients
,
in
populations
with
a
high
background
carrier
rate
of
MEFV
variants
,
should
be
screened
for
MEFV
gene
mutations
,
especially
those
diagnosed
as
indeterminate
colitis
.
Testing
larger
numbers
of
healthy
Egyptian
children
for
MEFV
gene
mutation
is
important
to
further
determine
the
allele
frequency
in
Egypt
.