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Cystic kidney disease in a patient with systemic toxicity from long-term D-penicillamine use.
[cystinuria]
D-
penicillamine
,
used
to
treat
cystinuria
,
is
known
to
cause
impaired
collagen
deposition
and
dysfunction
in
elastic
fibers
.
D-
penicillamine
also
has
been
associated
with
glomerular
abnormalities
,
typically
membranous
glomerulonephritis
.
We
describe
a
patient
with
severe
bilateral
cystic
kidney
disease
that
developed
after
long
-term
D-
penicillamine
use
for
treatment
of
cystinuria
.
The
cysts
in
the
kidneys
were
noted
during
an
evaluation
for
acute
kidney
injury
.
The
patient
had
no
evidence
of
cysts
on
prior
renal
imaging
at
a
time
when
his
kidney
function
was
normal
.
Simultaneously
,
he
presented
with
multiorgan
manifestations
of
D-
penicillamine
toxicity
,
including
the
skin
findings
of
cutix
laxa
and
elastosis
perforans
serpiginosa
.
Consequently
,
D-
penicillamine
treatment
was
discontinued
,
after
which
the
progression
of
cystic
kidney
disease
gradually
ceased
,
along
with
the
other
systemic
manifestations
of
toxicity
.
To
our
knowledge
,
this
is
the
first
report
of
cystic
kidney
disease
associated
with
and
perhaps
caused
by
long
-term
d-penicillamine
therapy
.
The
proposed
mechanism
of
cyst
formation
is
the
malfunction
of
the
extracellular
matrix
of
the
kidney
by
d-penicillamine
that
leads
to
an
impaired
repair
process
after
kidney
injury
.
Diseases
Validation
Diseases presenting
"first report"
symptom
achondroplasia
alexander disease
aniridia
cadasil
canavan disease
child syndrome
cohen syndrome
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
harlequin ichthyosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
pendred syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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