Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Familial hypocalciuric hypercalcemia in the donor and recipient of a living related donor kidney transplant.
[familial hypocalciuric hypercalcemia]
Familial
hypocalciuric
hypercalcemia
(
FHH
)
is
caused
by
heterozygous
inactivation
of
the
calcium-sensing
receptor
,
which
is
notably
expressed
in
parathyroid
and
kidney
.
FHH
is
characterized
by
asymptomatic
hypercalcemia
and
hypophosphatemia
and
confers
minimal
,
if
any
,
morbidity
.
Renal
transplantation
in
patients
with
FHH
has
not
been
described
previously
.
This
report
describes
a
patient
with
FHH
who
developed
end-
stage
renal
disease
from
another
cause
and
subsequently
received
a
living
related
donor
kidney
transplant
from
her
FHH
-affected
daughter
.
The
excellent
posttransplant
clinical
course
of
both
recipient
and
donor
is
emphasized
.