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Extreme intrafamilial variability of Saudi brothers with primary hyperoxaluria type 1.
[primary hyperoxaluria type 1]
Primary
hyperoxaluria
type
1
(
PH
1
)
is
characterized
by
progressive
renal
insufficiency
culminating
in
end-
stage
renal
disease
,
and
a
wide
range
of
clinical
features
related
to
systemic
oxalosis
in
different
organs
.
It
is
caused
by
autosomal
recessive
deficiency
of
alanine
:
glyoxylate
aminotransferase
due
to
a
defect
in
AGXT
gene
.
Two
brothers
(
one
6
months
old
;
the
other
2
years
old
)
presented
with
acute
renal
failure
and
urinary
tract
infection
respectively
.
PH
1
was
confirmed
by
high
urinary
oxalate
level
,
demonstration
of
oxalate
crystals
in
bone
biopsy
,
and
pathogenic
homozygous
known
AGXT
gene
mutation
.
Despite
the
same
genetic
background
,
same
sex
,
and
shared
environment
,
the
outcome
of
the
two
siblings
differs
widely
.
While
one
of
them
died
earlier
with
end-
stage
renal
disease
and
multiorgan
failure
caused
by
systemic
oxalosis
,
the
older
brother
is
pyridoxine
responsive
with
normal
development
and
renal
function
.
Clinicians
should
be
aware
of
extreme
intrafamilial
variability
of
PH
1
and
international
registries
are
needed
to
characterize
the
genotype-phenotype
correlation
in
such
disorder
.
Diseases
Validation
Diseases presenting
"same sex"
symptom
primary hyperoxaluria type 1
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