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Cholestyramine resin for erythropoietic protoporphyria with severe hepatic disease: a case report.
[erythropoietic protoporphyria]
Erythropoietic
protoporphyria
(
EPP
)
is
a
rare
disorder
of
heme
biosynthesis
caused
by
mutations
in
the
gene
encoding
the
enzyme
ferrochelatase
.
In
EPP
,
deficient
ferrochelatase
activity
leads
to
the
excessive
production
and
biliary
excretion
of
protoporphyrin
(
PP
)
.
The
major
clinical
features
of
EPP
are
photosensitivity
and
hepatobiliary
disease
that
may
progress
to
severe
liver
disease
,
that
are
caused
by
the
toxicity
of
PP
.
EPP
-related
liver
disease
has
been
treated
medically
or
surgically
including
liver
transplantation
.
We
described
a
20
-
year
-old
male
with
severe
liver
disease
who
was
diagnosed
with
EPP
based
on
clinical
and
laboratory
findings
.
He
was
treated
with
cholestyramine
resin
.
Six
months
after
the
treatment
,
he
was
doing
well
without
any
abdominal
pain
or
photosensitivity
.
Diseases
Validation
Diseases presenting
"hepatobiliary disease that may progress to severe liver disease"
symptom
erythropoietic protoporphyria
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