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Amyloid A amyloidosis in a Japanese patient with familial Mediterranean fever associated with homozygosity for the pyrin variant M694I/M694I.
[familial mediterranean fever]
Familial
Mediterranean
fever
(
FMF
)
is
an
autoinflammatory
disease
common
in
eastern
Mediterranean
populations
.
The
most
severe
complication
is
the
development
of
secondary
amyloid
A
(
AA
)
amyloidosis
.
A
51
-
year
-old
Japanese
male
who
had
been
suffering
from
periodic
fever
since
in
his
twenties
was
referred
to
our
hospital
for
proteinuria
.
Histological
findings
from
renal
biopsy
revealed
the
deposition
of
AA
amyloid
fibrils
,
suggesting
that
renal
dysfunction
was
due
to
AA
amyloidosis
.
Gene
analysis
of
the
patient
and
his
mother
showed
that
both
were
homozygous
for
the
M
694
I
mutation
in
the
MEFV
gene
.
His
mother
was
also
a
carrier
of
the
SAA
1
.
3
allele
,
which
is
not
only
a
univariate
predictor
of
survival
but
also
a
risk
factor
for
the
association
of
AA
amyloidosis
with
rheumatoid
arthritis
in
Japanese
patients
,
and
the
SAA
1
-
13
T
allele
in
the
13
T
/
C
polymorphism
on
the
5
'
-
flanking
region
of
the
SAA
1
gene
.
The
patient
was
also
a
carrier
of
the
SAA-
13
T
allele
.
Colchicine
resulted
in
not
only
an
amelioration
of
the
acute
febrile
attacks
of
FMF
inflammation
,
but
also
an
improvement
in
kidney
dysfunction
due
to
AA
amyloidosis
.
Diseases
Validation
Diseases presenting
"fever"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
alexander disease
allergic bronchopulmonary aspergillosis
canavan disease
carcinoma of the gallbladder
child syndrome
congenital toxoplasmosis
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
familial mediterranean fever
focal myositis
hodgkin lymphoma, classical
lamellar ichthyosis
legionellosis
locked-in syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
papillon-lefèvre syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
wolf-hirschhorn syndrome
This symptom has already been validated