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Erythropoietic protoporphyria and early onset of cholestasis.
[erythropoietic protoporphyria]
Erythropoietic
protoporphyria
(
EPP
)
is
an
inherited
defect
of
mitochondrial
ferrochelatase
.
This
defect
results
in
accumulation
of
protoporphyrin
in
erythrocytes
,
plasma
,
liver
,
and
skin
,
which
causes
severe
photosensitivity
.
Liver
disease
can
occur
in
1
-
4
%
of
the
patients
with
EPP
,
usually
after
at
least
a
decade
of
photosensitivity
.
Herein
,
we
describe
a
1
.
5
-
year
-old
child
with
EPP
with
severe
photosensitivity
,
heart
abnormalities
and
early
onset
of
cholestatic
liver
disease
,
whose
clinical
condition
improved
gradually
after
using
ursodeoxycholic
acid
.
It
seems
that
liver
disease
in
EPP
patients
is
not
limited
to
the
late
phases
of
the
disease
and
could
develop
in
childhood
and
early
phases
of
EPP
.
Awareness
among
physicians
has
a
major
role
in
the
early
detection
and
prevention
of
mistreatment
of
EPP
in
case
of
its
combination
with
other
abnormalities
.
Diseases
Validation
Diseases presenting
"early detection"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
allergic bronchopulmonary aspergillosis
carcinoma of the gallbladder
child syndrome
cholangiocarcinoma
classical phenylketonuria
congenital diaphragmatic hernia
cowden syndrome
cystinuria
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal squamous cell carcinoma
fabry disease
homocystinuria without methylmalonic aciduria
inclusion body myositis
kallmann syndrome
krabbe disease
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
pyomyositis
von hippel-lindau disease
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