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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
"diarrhea"
symptom
acute rheumatic fever
adrenomyeloneuropathy
benign recurrent intrahepatic cholestasis
cutaneous mastocytosis
esophageal carcinoma
fabry disease
familial mediterranean fever
hirschsprung disease
kabuki syndrome
legionellosis
lymphangioleiomyomatosis
omenn syndrome
pendred syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
scrub typhus
systemic capillary leak syndrome
triple a syndrome
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
wiskott-aldrich syndrome
This symptom has already been validated
