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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
.
Diseases
Validation
Diseases presenting
"bowel disease"
symptom
acute rheumatic fever
benign recurrent intrahepatic cholestasis
cholangiocarcinoma
familial mediterranean fever
hirschsprung disease
legionellosis
malignant atrophic papulosis
primary effusion lymphoma
severe combined immunodeficiency
typhoid
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