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Liver transplantation in the management of porphyria.
[erythropoietic protoporphyria]
Porphyrias
are
a
group
of
eight
metabolic
disorders
,
each
resulting
from
a
mutation
that
affects
an
enzyme
of
the
heme
biosynthetic
pathway
.
Porphyrias
are
classified
as
hepatic
or
erythropoietic
,
depending
upon
the
site
where
the
gene
defect
is
predominantly
expressed
.
Clinical
phenotypes
are
classified
as
follows
:
(
1
)
acute
porphyrias
with
neurovisceral
symptoms
:
acute
intermittent
porphyria
;
delta
amino-levulinic
acid
hydratase
deficiency
porphyria
;
hereditary
coproporphyria
;
and
variegate
porphyria
and
(
2
)
cutaneous
porphyrias
with
skin
blistering
and
photosensitivity
:
porphyria
cutanea
tarda
;
congenital
erythropoietic
porphyria
;
hepatoerythropoietic
porphyria
and
both
erythropoietic
protoporphyrias
:
autosomal
dominant
and
X-
linked
.
Liver
transplantation
(
LT
)
may
be
needed
for
recurrent
and
/
or
life-threatening
acute
attack
in
acute
intermittent
porphyria
or
acute
liver
failure
or
end-
stage
chronic
liver
disease
in
erythropoietic
protoporphyria
.
LT
in
acute
intermittent
porphyria
is
curative
.
Erythropoietic
protoporphyria
patients
needing
LT
should
be
considered
for
bone
marrow
transplantation
to
achieve
cure
.
This
article
provides
an
overview
of
porphyria
with
diagnostic
approaches
and
management
strategies
for
specific
porphyrias
and
recommendations
for
LT
with
indications
,
pretransplant
evaluation
,
and
posttransplant
management
.
Diseases
Validation
Diseases presenting
"a mutation that affects an enzyme of the heme biosynthetic pathway"
symptom
erythropoietic protoporphyria
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