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Amyloid goiter due to familial mediterranean Fever in a patient with byler syndrome: a case report.
[familial mediterranean fever]
Familial
Mediterranean
Fever
(
FMF
)
,
also
inherited
with
autosomal
recessive
trait
,
is
characterized
by
recurrent
episodes
of
fever
,
arthritis
,
and
serositis
.
Congenital
Byler
Syndrome
(
Progressive
Familial
Intrahepatic
Cholestasis
)
inherited
with
autosomal
recessive
trait
and
characterized
by
defective
secretion
of
bile
acids
.
FMF
associated
Amyloid
A
deposition
occurs
in
many
tissues
and
organs
,
but
amyloid
goiter
is
a
rare
entity
that
leads
to
enlargement
and
dysfunction
of
the
thyroid
.
We
present
a
rare
case
of
24
year
old
male
patient
who
had
liver
and
kidney
transplantation
due
to
Byler
Syndrome
and
secondary
amyloidosis
related
to
FMF
,
diagnosed
as
rapidly
growing
large
amyloid
goiter
.
Deposits
of
extracellular
amyloid
and
dense
adipose
metaplasia
diagnostic
for
amyloid
goiter
are
determined
upon
histopathological
examination
of
thyroidectomy
material
.
When
goiter
was
detected
in
cases
with
history
of
systemic
amyloidosis
and
rapidly
growing
goitre
,
amyloid
goiter
should
be
remembered
at
first
.
This
case
is
unique
since
two
autosomal
genetic
disorders
are
together
in
the
same
patient
and
important
as
it
emphasizes
the
consequences
of
consanguineous
marriage
,
early
diagnosis
and
treatment
compliance
of
FMF
and
the
awareness
of
amyloid
goiter
in
patients
followed
by
primary
care
physicians
and
healthcare
professionals
.
Diseases
Validation
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"early diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
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proteus syndrome
pyomyositis
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scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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