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The prognostic value of cord blood analysis in erythropoietic protoporphyria: the 'Duesseldorf Cord Blood Study'.
[erythropoietic protoporphyria]
Erythropoietic
protoporphyria
(
EPP
)
is
the
most
common
porphyria
in
childhood
,
presenting
with
painful
and
burning
skin
sensations
as
well
as
erythema
and
edema
after
sun
exposure
.
It
represents
an
inherited
disorder
of
heme
metabolism
that
is
due
to
a
reduced
ferrochelatase
enzyme
activity
.
The
diagnosis
is
usually
established
when
symptoms
start
by
measuring
elevated
levels
of
protoporphyrin
in
erythrocytes
.
The
aim
of
our
study
was
to
question
the
predictive
value
of
cord
blood
analysis
in
newborn
relatives
of
EPP
patients
as
this
may
offer
the
earliest
possible
diagnosis
of
EPP
in
newborn
relatives
of
affected
patients
.
Erythrocyte
porphyrin
(
EP
)
was
measured
immediately
after
birth
in
18
newborn
relatives
of
EPP
patients
.
EP
was
correlated
to
the
subsequent
clinical
follow-up
of
mean
9
years
after
birth
.
We
found
EP
to
be
within
reference
values
in
all
18
newborn
relatives
of
EPP
patients
at
birth
.
Out
of
14
patients
who
were
included
in
the
follow-up
period
of
median
9
years
,
13
remained
asymptomatic
whereas
one
boy
developed
the
typical
symptoms
of
EPP
at
the
age
of
three
in
combination
with
elevated
EP
.
B
ased
on
the
findings
of
our
study
,
we
assume
that
cord
blood
analysis
is
not
a
reliable
prognostic
tool
in
EPP
from
the
actual
point
of
view
.
Diseases
Validation
Diseases presenting
"inherited disorder of heme metabolism"
symptom
erythropoietic protoporphyria
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