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An uncommon cause of acute kidney injury in young children: cystinuria.
[cystinuria]
Bilateral
obstructive
nephrolithiasis
is
a
rare
cause
of
acute
kidney
injury
(
AKI
)
in
early
childhood
.
As
soon
as
the
identification
of
AKI
secondary
to
ureteral
stone
is
made
,
it
will
necessitate
an
emergency
treatment
.
We
report
three
infants
with
AKI
caused
by
bilateral
obstructive
ureteral
cystine
stones
.
They
were
diagnosed
with
acute
post-
renal
injury
due
to
obstructive
bilateral
ureteral
stones
based
on
ultrasound
scan
findings
.
Immediately
,
bilateral
ureteral
stents
were
inserted
for
urinary
drainage
.
Once
renal
function
recovered
to
normal
,
each
patient
underwent
ureteroscopy
and
percutaneous
nephrolithotomy
at
the
same
session
.
Cystinuria
was
diagnosed
by
stone
analysis
and
increased
urinary
excretion
of
cystine
.
Patients
were
advised
to
maintain
a
high
fluid
intake
and
were
treated
with
potassium
citrate
in
addition
to
tiopronin
.
With
these
three
cases
we
would
like
to
emphasize
the
importance
of
urolithiasis
in
the
differential
diagnosis
of
acute
renal
failure
in
young
children
,
since
urolithiasis
may
only
cause
nonspecific
symptoms
in
this
population
.
An
early
diagnosis
with
prompt
treatment
and
a
close
follow-up
are
the
key
for
achieving
the
best
long
-term
outcome
in
cystinuria
.
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
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