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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
"immunodeficiency"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
cushing syndrome
dracunculiasis
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kabuki syndrome
legionellosis
malignant atrophic papulosis
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
primary hyperoxaluria type 1
pyomyositis
severe combined immunodeficiency
sneddon syndrome
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated