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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
"plasma"
symptom
erythropoietic protoporphyria
oral submucous fibrosis
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