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Role of genetic testing in the management of patients with inherited porphyria and their families.
[erythropoietic protoporphyria]
The
porphyrias
are
a
group
of
mainly
inherited
metabolic
conditions
that
result
from
partial
deficiency
of
individual
enzymes
in
the
haem
biosynthesis
pathway
.
Clinical
presentation
is
either
with
acute
neurovisceral
attacks
,
skin
photosensitivity
or
both
,
and
is
due
to
overproduction
of
pathway
intermediates
.
The
primary
diagnosis
in
the
proband
is
based
on
biochemical
testing
of
appropriate
samples
,
preferably
during
or
soon
after
onset
of
symptoms
.
The
role
of
genetic
testing
in
the
autosomal
dominant
acute
porphyrias
(
acute
intermittent
porphyria
,
hereditary
coproporphyria
and
variegate
porphyria
)
is
to
identify
presymptomatic
carriers
of
the
family
specific
pathogenic
mutation
so
that
they
can
be
counselled
on
how
to
minimize
their
risk
of
suffering
an
acute
attack
.
At
present
the
additional
genetic
factors
that
influence
penetrance
are
not
known
,
and
all
patients
are
treated
as
equally
at
risk
.
Genetic
testing
in
the
erythropoietic
porphyrias
(
erythropoietic
protoporphyria
,
congenital
erythropoietic
porphyria
and
X-
linked
dominant
protoporphyria
)
is
focused
on
predictive
and
preconceptual
counselling
,
prenatal
testing
and
genotype-phenotype
correlation
.
Recent
advances
in
analytical
technology
have
resulted
in
increased
sensitivity
of
mutation
detection
with
success
rates
of
greater
than
90
%
for
most
of
the
genes
.
The
ethical
and
consent
issues
are
discussed
.
Current
research
into
genetic
factors
that
affect
penetrance
is
likely
to
lead
to
a
more
refined
approach
to
counselling
for
presymptomatic
gene
carriers
.
Diseases
Validation
Diseases presenting
"deficiency of individual enzymes in the haem biosynthesis pathway"
symptom
erythropoietic protoporphyria
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