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Clinical characteristics and metabolic abnormalities in preschool-age children with urolithiasis in southeast Anatolia.
[cystinuria]
Data
on
urolithiasis
in
preschool-age
children
are
limited
.
The
aim
of
this
study
was
to
investigate
the
metabolic
etiology
and
clinical
findings
of
preschool-age
children
with
urolithiasis
.
The
medical
records
of
143
preschool-age
children
(
81
boys
,
62
girls
,
aged
2
-
6
years
)
with
urolithiasis
were
retrospectively
analyzed
.
Results
of
physical
examination
,
serum
biochemistry
,
and
urine
metabolic
evaluation
(
including
urinary
citrate
,
oxalate
,
calcium
,
uric
acid
,
cystine
,
and
magnesium
)
were
recorded
.
The
mean
age
at
diagnosis
was
3
.
7
±
1
.
3
years
.
A
family
history
of
stone
disease
was
found
in
79
.
7
%
of
patients
,
and
37
%
of
parents
had
consanguineous
marriages
.
The
most
common
presenting
symptoms
were
hematuria
(
33
%
)
and
urinary
tract
infection
(
UTI
;
29
%
)
.
Metabolic
abnormalities
were
found
in
119
(
83
.
2
%
)
patients
,
including
hyperuricosuria
in
24
.
5
%
,
hypocitraturia
in
23
.
8
%
,
hyperoxaluria
in
21
.
7
%
,
hypercalciuria
in
21
.
0
%
,
cystinuria
in
7
.
7
%
,
and
hypomagnesuria
in
1
.
4
%
.
Multiple
metabolic
abnormalities
were
found
in
24
(
16
.
8
%
)
patients
.
Results
of
28
stone
analyses
revealed
calcium
oxalate
or
phosphate
,
cystine
,
and
uric
acid
in
15
,
nine
,
and
four
of
the
patients
,
respectively
.
(
99
m
)
Technetium-dimercaptosuccinic
acid
renal
scintigraphy
revealed
that
27
.
8
%
of
the
children
with
UTI
had
renal
parenchymal
scarring
,
with
only
four
of
them
having
vesicoureteral
reflux
.
The
most
frequent
metabolic
abnormalities
in
preschool-age
children
with
urolithiasis
were
hyperuricosuria
and
hypocitraturia
.
A
comprehensive
investigation
of
stone
disease
in
children
presenting
with
hematuria
and
UTI
is
important
to
prevent
the
development
of
renal
parenchymal
scarring
.
Diseases
Validation
Diseases presenting
"scarring"
symptom
acute rheumatic fever
cutaneous mastocytosis
cystinuria
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
focal myositis
junctional epidermolysis bullosa
kindler syndrome
malignant atrophic papulosis
oral submucous fibrosis
papillon-lefèvre syndrome
primary hyperoxaluria type 1
proteus syndrome
This symptom has already been validated