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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
"long-term outcome"
symptom
aniridia
cholangiocarcinoma
classical phenylketonuria
cystinuria
erythropoietic protoporphyria
esophageal squamous cell carcinoma
fabry disease
hirschsprung disease
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
krabbe disease
oligodontia
papillon-lefèvre syndrome
primary hyperoxaluria type 1
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
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