In this lecture, we’re going to
review polycystic kidney disease.
Polycystic kidney disease
comes in two major types:
Autosomal recessive and
So autosomal recessive
polycystic kidney disease
is what we see most
often in children.
It can present congenitally
and early in infancy.
Generally, there is dilatation in this
case of the collecting ducts of the kidney
resulting in cysts forming
in those kidneys.
These patients may also
develop a hepatic fibrosis.
This is compared to autosomal
dominant kidney disease
which usually presents in
adulthood and worsens with age.
It’s often diagnosed
It will be very rare to make
this diagnosis in a child
unless there was already a
family history of the disease.
Cysts can form in autosomal dominant
disease in multiple organs.
The kidney is certainly involved,
but these patients may develop cysts
in the liver, the pancreas, et cetera.
So in autosomal recessive
polycystic kidney disease,
this is often picked up
on prenatal ultrasound.
This is because the cyst
exist in utero as well
and they may have a
decreased urine output.
Recall that the amniotic fluid is mostly
generated by urine output in utero.
As a result, because they may
don’t have much urine output,
these children may present with
oligohydramnios in the prenatal period
during the routine ultrasound of the child.
This patient may have
but also they may have
and they may be in respiratory
distress from pulmonary hypoplasia
as a result of having poor urine output and
having less fluid in their amniotic sac.
This is compared adult onset autosomal
dominant polycystic kidney disease
which is only incidentally
found in childhood
and it’s very rare to have symptoms before
adulthood, usually around 30 years of age.
So because the autosomal recessive
variety of polycystic kidney disease
is the one we see in children and
I’m delivering pediatric lectures,
I want to focus on the recessive form
of infantile polycystic kidney disease.
Like I said, this is usually
noted on prenatal ultrasound
and often presents in
the newborn period.
Also, these patients may well
have pulmonary hypoplasia.
Remember that the in-utero environment
is important for lung development
and in particular, that pressure
that is created by amniotic fluid
and that is then filtering down into the
lungs is necessary for lung development.
These patients therefore may have
pulmonary hypoplasia as well.
On ultrasound, we will
usually find cysts.
This can be almost diagnostic.
Patients may often
or increased creatinine
from their renal failure.
Additionally, these patients are increased
risk for urinary tract infection
and in particular
Genetic testing is
available and may be useful
in families where this
condition has been seen before
and they’re worried about having
another child with the condition.
So how do we manage polycystic
kidney disease in infants?
support is key,
especially for those patients
with pulmonary hypoplasia.
We may put them on dialysis
because their kidneys aren’t
functioning particularly well.
These children will often need
again, because of the renal failure.
Eventually, this may lead
to renal transplant.
Typically, they may just leave the old
kidneys in there rather than remove them
and simply place a new one.
In infants, renal transplant may take place
in the abdominal compartment as
opposed to retroperitoneally.
The prognosis of these children depends
on the severity of their disease
and how rapidly
Genetic counseling is important to families
so they can understand
risks to future children
and that may mitigate in some way
how future pregnancies are handled.
So that’s my summary of polycystic
kidney disease in children.
Thanks for your time.