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[A case of erythropoietic protoporphyria with severe liver dysfunction].
[erythropoietic protoporphyria]
A
27
-
year
-old
man
was
admitted
to
our
hospital
for
evaluation
and
treatment
of
liver
dysfunction
with
jaundice
and
hepatosplenomegaly
.
The
patient
had
severe
photosensitivity
from
childhood
.
Upper
gastrointestinal
endoscopy
revealed
mild
esophageal
varices
.
The
clinical
manifestations
,
analyses
of
the
urine
and
blood
for
porphyrins
and
skin
biopsy
led
us
to
a
diagnosis
of
erythropoietic
protoporphyria
.
Because
of
acute
deterioration
of
liver
function
,
living
donor
liver
transplantation
was
performed
.
The
resected
liver
revealed
cirrhosis
.
We
report
a
rare
case
of
erythropoietic
protoporphyria
with
severe
liver
dysfunction
and
present
a
review
of
the
literature
.
Diseases
Validation
Diseases presenting
"liver dysfunction"
symptom
erythropoietic protoporphyria
heparin-induced thrombocytopenia
neonatal adrenoleukodystrophy
neuralgic amyotrophy
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated
