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Encapsulating peritoneal sclerosis in a patient with primary hyperoxaluria type 1: a case report.
[primary hyperoxaluria type 1]
Primary
hyperoxaluria
type
1
(
PH
1
)
is
a
rare
metabolic
disorder
caused
by
a
defect
in
glyoxylate
metabolism
attributable
to
low
or
absent
activity
of
the
liver
-
specific
peroxisomal
enzyme
alanine
/
glyoxylate
aminotransferase
.
This
defect
leads
to
enhanced
conversion
of
glyoxylate
to
poorly
soluble
oxalate
,
which
is
then
excreted
into
the
urine
.
This
process
may
lead
to
deposition
of
calcium
oxalate
crystals
in
many
tissues
as
well
as
in
the
kidneys
,
resulting
in
nephrolithiasis
,
nephrocalcinosis
,
and
/
or
renal
failure
.
We
present
a
39
-
year
-old
patient
with
end-
stage
renal
failure
due
to
PH
1
,
who
was
admitted
with
symptoms
of
feeling
bloated
,
vomiting
,
diarrhea
,
and
abdominal
pain
related
to
encapsulating
peritoneal
sclerosis
(
EPS
)
.
He
had
been
treated
with
peritoneal
dialysis
for
a
total
period
of
5
years
.
EPS
is
a
rare
condition
characterized
by
fibrosis
and
adhesions
of
the
peritoneum
to
loops
of
the
small
intestine
and
has
been
described
secondary
to
treatment
with
peritoneal
dialysis
.
It
also
occurs
in
a
variety
of
other
clinical
conditions
such
as
autoimmune
diseases
and
peritoneal
and
intra-
abdominal
malignancies
.
The
calcium
oxalate
crystals
found
in
the
peritoneal
fascia
of
this
particular
patient
may
suggest
a
causative
relationship
between
crystal
deposits
and
evolution
to
fibrosis
and
sclerosis
of
the
peritoneum
.
The
degree
of
impact
of
the
peritoneal
dialysis
treatment
itself
on
the
development
of
EPS
,
however
,
is
uncertain
.
Diseases
Validation
Diseases presenting
"vomiting"
symptom
22q11.2 deletion syndrome
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
carcinoma of the gallbladder
child syndrome
cholangiocarcinoma
congenital toxoplasmosis
cutaneous mastocytosis
dedifferentiated liposarcoma
esophageal squamous cell carcinoma
homocystinuria without methylmalonic aciduria
kallmann syndrome
locked-in syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
neonatal adrenoleukodystrophy
primary hyperoxaluria type 1
proteus syndrome
scrub typhus
severe combined immunodeficiency
systemic capillary leak syndrome
triple a syndrome
typhoid
von hippel-lindau disease
This symptom has already been validated
