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Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome.
[primary hyperoxaluria type 1]
We
sought
to
ascertain
the
long
-term
outcome
and
genotype-phenotype
correlations
available
for
primary
hyperoxaluria
type
1
in
a
large
retrospective
cohort
study
.
We
examined
the
clinical
history
of
155
patients
(
129
families
primarily
from
Western
Europe
,
North
Africa
,
or
the
Middle
East
)
as
well
as
the
enzymatic
or
genetic
diagnosis
.
The
median
age
at
first
symptom
was
4
years
,
and
at
diagnosis
7
.
7
years
,
at
which
time
43
%
had
reached
end-
stage
renal
disease
.
Presentations
included
:
(
1
)
early
nephrocalcinosis
and
infantile
renal
failure
,
(
2
)
recurrent
urolithiasis
and
progressive
renal
failure
diagnosed
during
childhood
,
(
3
)
late
onset
with
occasional
stone
passage
diagnosed
in
adulthood
,
(
4
)
diagnosis
occurring
on
post-transplantation
recurrence
,
and
(
5
)
family
screening
.
The
cumulative
patient
survival
was
95
,
86
,
and
74
%
at
ages
10
,
30
,
and
50
years
,
respectively
,
with
the
cumulative
renal
survival
of
81
,
59
,
41
,
and
10
%
at
ages
10
,
20
,
30
,
and
50
years
,
respectively
;
72
patients
had
undergone
a
total
of
97
transplantations
.
Among
the
136
patients
with
DNA
analysis
,
the
most
common
mutation
was
p
.
Gly
170
Arg
(
allelic
frequency
21
.
5
%
)
,
with
a
median
age
at
end-
stage
renal
disease
of
47
years
for
homozygotes
,
35
years
for
heterozygotes
,
and
21
years
for
other
mutations
.
Our
results
underscore
the
severe
prognosis
of
primary
hyperoxaluria
type
1
and
the
necessity
for
early
diagnosis
and
treatment
,
as
well
as
confirm
a
better
prognosis
of
the
p
.
Gly
170
A
rg
mutation
.
Diseases
Validation
Diseases presenting
"hyperoxaluria"
symptom
cystinuria
neonatal adrenoleukodystrophy
primary hyperoxaluria type 1
This symptom has already been validated