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Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency.
[homocystinuria without methylmalonic aciduria]
A
20
-
year
-old
man
was
hospitalized
for
malignant
hypertension
,
mechanical
hemolysis
,
and
kidney
failure
.
Kidney
biopsy
confirmed
glomerular
and
arteriolar
thrombotic
microangiopathy
.
Etiologic
analyses
,
which
included
ADAMTS
13
activity
,
stool
culture
,
complement
factor
proteins
(
C
3
,
C
4
,
factor
H
,
factor
I
,
and
MCP
[
membrane
cofactor
protein
]
)
,
anti-
factor
H
antibodies
,
HIV
(
human
immunodeficiency
virus
)
serology
,
and
antinuclear
and
antiphospholipid
antibodies
,
returned
normal
results
.
Malignant
hypertension
was
diagnosed
.
Ten
months
later
,
we
observed
a
relapse
of
acute
kidney
injury
and
mechanical
hemolysis
.
Considering
a
diagnosis
of
complement
dysregulation-related
atypical
hemolytic
uremic
syndrome
(
HUS
)
,
we
began
treatment
with
eculizumab
.
Despite
the
efficient
complement
blockade
,
the
patient
's
kidney
function
continued
to
decline
.
We
performed
additional
analyses
and
found
that
the
patient
's
homocysteine
levels
were
dramatically
increased
,
with
no
vitamin
B
12
(
cobalamin
)
or
folate
deficiencies
.
We
observed
very
low
plasma
methionine
levels
associated
with
methylmalonic
aciduria
,
which
suggested
cobalamin
C
disease
.
We
stopped
the
eculizumab
infusions
and
initiated
specific
treatment
,
which
resulted
in
complete
cessation
of
hemolysis
.
MMACHC
(
methylmalonic
aciduria
and
homocystinuria
type
C
protein
)
sequencing
revealed
compound
heterozygosity
for
2
causative
mutations
.
To
our
knowledge
,
this
is
the
first
report
of
adult-onset
cobalamin
C-
related
HUS
.
Considering
the
wide
availability
and
low
cost
of
the
homocysteine
assay
,
we
suggest
that
it
be
included
in
the
diagnostic
algorithm
for
adult
patients
who
present
with
HUS
.
Diseases
Validation
Diseases presenting
"mechanical hemolysis"
symptom
homocystinuria without methylmalonic aciduria
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