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Hereditary causes of kidney stones and chronic kidney disease.
[cystinuria]
Adenine
phosphoribosyltransferase
(
APRT
)
deficiency
,
cystinuria
,
Dent
disease
,
familial
hypomagnesemia
with
hypercalciuria
and
nephrocalcinosis
(
FHHNC
)
,
and
primary
hyperoxaluria
(
PH
)
are
rare
but
important
causes
of
severe
kidney
stone
disease
and
/
or
chronic
kidney
disease
in
children
.
Recurrent
kidney
stone
disease
and
nephrocalcinosis
,
particularly
in
pre-pubertal
children
,
should
alert
the
physician
to
the
possibility
of
an
inborn
error
of
metabolism
as
the
underlying
cause
.
Unfortunately
,
the
lack
of
recognition
and
knowledge
of
the
five
disorders
has
frequently
resulted
in
an
unacceptable
delay
in
diagnosis
and
treatment
,
sometimes
with
grave
consequences
.
A
high
index
of
suspicion
coupled
with
early
diagnosis
may
reduce
or
even
prevent
the
serious
long
-term
complications
of
these
diseases
.
In
this
paper
,
we
review
the
epidemiology
,
clinical
features
,
diagnosis
,
treatment
,
and
outcome
of
patients
with
APRT
deficiency
,
cystinuria
,
Dent
disease
,
FHHNC
,
and
PH
,
with
an
emphasis
on
childhood
manifestations
.
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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