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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
"abdominal pain"
symptom
22q11.2 deletion syndrome
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
carcinoma of the gallbladder
child syndrome
cholangiocarcinoma
congenital diaphragmatic hernia
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
erdheim-chester disease
erythropoietic protoporphyria
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
focal myositis
liposarcoma
lymphangioleiomyomatosis
malignant atrophic papulosis
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
typhoid
von hippel-lindau disease
well-differentiated liposarcoma
This symptom has already been validated
