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Primary hyperoxaluria type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort.
[primary hyperoxaluria type 1]
Primary
hyperoxaluria
Type
1
,
an
inherited
disorder
with
increased
endogenous
oxalate
production
,
leads
to
the
development
of
urolithiasis
,
nephrocalcinosis
and
end-
stage
renal
disease
(
ESRD
)
.
Contrary
to
the
general
belief
that
patients
diagnosed
during
adulthood
experience
a
relatively
mild
course
of
disease
,
we
were
confronted
with
several
cases
of
ESRD
caused
by
previously
undiagnosed
primary
hyperoxaluria
.
To
study
renal
and
patient
survival
in
relation
with
genotype
,
age
at
onset
of
disease
and
therapeutic
delay
,
we
performed
a
nationwide
search
among
all
Dutch
nephrologists
and
paediatric
nephrologists
.
Of
the
79
included
patients
,
38
%
was
diagnosed
at
an
adult
age
.
ESRD
was
present
at
the
time
of
diagnosis
in
26
%
of
paediatric
diagnosed
patients
versus
52
%
of
adult-diagnosed
patients
(
P
=
0
.
021
)
.
Homozygosity
for
the
pyridoxine-responsive
p
.
Gly
170
A
rg
or
p
.
Phe
152
I
le
genotype
was
found
in
26
%
of
paediatric
diagnosed
patients
versus
68
%
of
adult-diagnosed
patients
(
P
<
0
.
001
)
.
Of
homozygous
p
.
Gly
170
Arg
or
p
.
Phe
152
Ile
patients
,
48
%
developed
ESRD
at
a
median
age
of
37
years
,
compared
with
48
%
in
those
with
other
mutations
at
a
median
age
of
0
.
5
years
(
P
<
0
.
001
)
.
Of
the
16
patients
found
through
family
screening
,
81
%
had
a
preserved
renal
function
.
The
high
prevalence
of
pyridoxine-responsive
genotypes
and
favourably
prognosis
of
timely
treatment
warrant
early
diagnostic
screening
for
primary
hyperoxaluria
Type
1
in
patients
with
recurrent
urolithiasis
.
This
will
preserve
kidney
function
and
prevent
diagnosis
of
adult
diagnosed
patients
in
ESRD
.
Diseases
Validation
Diseases presenting
"early diagnostic screening"
symptom
primary hyperoxaluria type 1
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