Rare Diseases Symptoms Automatic Extraction
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A rare case of primary hyperoxaluria type 1 co-existing with autosomal-dominant polycystic kidney disease in a newborn.
[primary hyperoxaluria type 1]
We
describe
the
first
reported
case
to
our
knowledge
of
an
infant
presenting
with
the
extremely
rare
association
of
primary
hyperoxaluria
type
1
(
PH-
1
)
and
autosomal-dominant
polycystic
kidney
disease
(
ADPKD
)
.
This
diagnosis
was
suspected
on
the
basis
of
the
renal
US
findings
and
confirmed
by
complementary
examinations
.
It
led
to
severe
oxalosis
with
very
rapid
onset
of
end-
stage
renal
failure
(
ESRF
)
and
required
combined
liver
-kidney
transplantation
at
the
age
of
18
months
.
The
boy
died
13
days
after
transplantation
.
Diseases
Validation
Diseases presenting
"first reported case"
symptom
achondroplasia
acute rheumatic fever
alexander disease
allergic bronchopulmonary aspergillosis
aniridia
cutaneous mastocytosis
dedifferentiated liposarcoma
epidermolysis bullosa simplex
fabry disease
focal myositis
harlequin ichthyosis
heparin-induced thrombocytopenia
kabuki syndrome
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
thoracic outlet syndrome
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
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