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Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.
[primary hyperoxaluria type 1]
Primary
hyperoxaluria
Type
1
is
a
rare
autosomal
recessive
inborn
error
of
glyoxylate
metabolism
,
caused
by
a
deficiency
of
the
liver
-
specific
enzyme
alanine
:
glyoxylate
aminotransferase
.
The
disorder
results
in
overproduction
and
excessive
urinary
excretion
of
oxalate
,
causing
recurrent
urolithiasis
and
nephrocalcinosis
.
As
glomerular
filtration
rate
declines
due
to
progressive
renal
involvement
,
oxalate
accumulates
leading
to
systemic
oxalosis
.
The
diagnosis
is
based
on
clinical
and
sonographic
findings
,
urine
oxalate
assessment
,
enzymology
and
/
or
DNA
analysis
.
Early
initiation
of
conservative
treatment
(
high
fluid
intake
,
pyridoxine
,
inhibitors
of
calcium
oxalate
crystallization
)
aims
at
maintaining
renal
function
.
In
chronic
kidney
disease
Stages
4
and
5
,
the
best
outcomes
to
date
were
achieved
with
combined
liver
-kidney
transplantation
.
Diseases
Validation
Diseases presenting
"combined liver-kidney transplantation"
symptom
primary hyperoxaluria type 1
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