Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Familial Mediterranean fever in Syrian children: phenotype-genotype correlation.
[familial mediterranean fever]
Familial
Mediterranean
fever
(
FMF
)
is
an
autosomal
recessive
disease
characterized
by
recurrent
attacks
of
serosal
membranes
.
In
this
study
,
103
unrelated
Syrian
children
were
included
.
Mutation
screening
of
the
MEditerranean
FeVer
gene
was
performed
for
12
mutations
.
Abdominal
pain
was
observed
in
91
(
88
.
3
Â
%
)
of
the
patients
,
fever
in
82
(
79
.
6
Â
%
)
,
arthritis
in
27
(
26
.
2
Â
%
)
,
pleuritis
in
7
(
6
.
7
.
5
Â
%
)
,
rash
and
erysipelas
-like
erythema
in
5
(
4
.
8
Â
%
)
,
myalgia
in
5
(
4
.
8
Â
%
)
,
headache
in
5
(
4
.
8
Â
%
)
and
Henoch-
Schonlein
purpura
in
1
(
0
.
97
Â
%
)
.
The
most
frequent
mutation
was
M
694
V
.
In
order
to
determine
the
association
between
M
694
V
and
clinical
features
of
FMF
,
we
compared
the
disease
features
between
patients
with
and
without
this
mutation
.
The
presence
of
M
694
V
was
found
to
be
associated
with
more
severe
course
of
FMF
,
earlier
age
of
onset
and
more
frequent
arthritis
in
the
Syrian
children
with
FMF
compared
to
other
FMF
patients
who
do
not
have
this
mutation
.
