Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Nephrolithiasis-induced end stage renal disease.
[primary hyperoxaluria type 1]
Nephrolithiasis
still
remains
a
too
frequent
and
underappreciated
cause
of
end
stage
renal
disease
(
ESRD
)
.
Of
the
entire
cohort
of
7128
consecutive
patients
who
started
maintenance
dialysis
in
our
nephrology
department
between
January
1992
and
December
2006
,
a
total
of
45
patients
(
26
women
,
19
men
)
had
renal
stone
disease
as
the
cause
of
ESRD
.
The
type
of
nephrolithiasis
was
determined
in
45
cases
and
etiology
in
42
.
The
treatment
and
evolution
of
stone
disease
and
patient
's
survival
were
studied
.
The
overall
proportion
of
nephrolithiasis
related
ESRD
was
0
.
63
%
.
The
mean
age
was
48
.
4
years
.
Infection
stones
(
struvite
)
accounted
for
40
%
,
calcium
stones
,
26
.
67
%
(
primary
hyperparathyroidism
:
15
.
56
%
;
familial
hypercalciuria
:
4
.
44
%
,
unknown
etiology
:
6
.
66
%
)
,
primary
hyperoxaluria
type
1
,
17
.
78
%
and
uric
acid
lithiasis
in
15
.
56
%
of
cases
.
The
mean
delay
of
the
evolution
of
the
stone
renal
disease
to
chronic
renal
failure
was
85
.
8
months
.
The
feminine
gender
,
obesity
and
elevated
alkaline
phosphatases
>
128
IU
/
L
were
significantly
correlated
with
fast
evolution
of
ESRD
.
The
median
evolution
to
ESRD
was
12
months
.
The
normal
body
mass
index
(
BMI
)
,
medical
treatment
of
stone
and
primary
hyperoxaluria
type
1
were
correlated
with
fast
evolution
to
ESRD
.
All
patients
were
treated
by
hemodialysis
during
a
mean
evolution
of
60
months
.
Sixteen
patients
died
.
The
patient
's
survival
rate
at
1
,
3
and
5
years
was
97
.
6
,
92
.
8
and
69
%
respectively
.
Hypocalcemia
,
cardiopathy
and
normal
calcium
-phosphate
product
were
significantly
correlated
with
lower
survival
rate
.
Severe
forms
of
nephrolithiasis
remain
an
underestimated
cause
of
ESRD
.
These
findings
highlight
the
crucial
importance
of
accurate
stone
analysis
and
metabolic
evaluation
to
provide
early
diagnosis
and
efficient
treatment
for
conditions
leading
to
ESRD
.
Diseases
Validation
Diseases presenting
"early diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom
