Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"could develop in childhood and early phases of epp"
symptom
erythropoietic protoporphyria
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom