Polycystic Kidney Disease (PKD) is a hereditary condition characterized by the formation of cysts in various organs, most notably the kidneys, which can lead to serious complications such as high blood pressure and aneurysms. There are three main types of PKD: autosomal dominant PKD (ADPKD), which is common and manifests typically in adulthood, autosomal recessive PKD (ARPKD), which is rare and often fatal in infancy, and acquired cystic kidney disease (ACKD), associated with kidney failure. Currently, there is no cure for PKD, but management focuses on controlling symptoms and preventing complications.

1. Muhammad Kamran Sial
University Of Sargodha

2.  History
 PKD was first described in
ninetieth century European
medical literature
 A comprehensive study about
this disease was first published
in 1957 by Dr O Z Dalgard.
 The PKD discussed by him
refers to Autosomal dominant
PKD (ADPKD) or Adult PKD.
 This form of PKD is not to be
confused with Autosomal
recessive PKD.
(Renal Resource centre)

3. Affects on body
 Produces cysts in
 liver
 pancreas
 spleen
 ovaries
 large bowel
 Cysts in these organs usually do
not cause serious problems
(Polycystic Kidney Disease Foundation)

4.  PKD can also affect the
brain or heart.
In brain,
it can cause an aneurysm.
An aneurysm is a bulging blood
vessel that can burst,
resulting in a stroke or even
death
In heart, the valves can
become floppy, resulting
in a heart murmur in
some patients
(Polycystic Kidney Disease Foundation)

5. 1.Autosomal Dominant PKD (also
called PKD or ADPKD)
• Transmitted by parent to child by
dominant inheritance.
• In other words, only one copy of
the abnormal gene is needed to
cause the disease
2.Infantile or Autosomal Recessive PKD
(also called ARPKD)
• Transmitted by parent to child by
recessive inheritance.
• It tends to be very serious and is often
fatal in the first few months of life
• ARPKD is extremely rare. It occurs in 1 out
of 25,000 people
(Polycystic Kidney Disease Foundation)

6. 3.Acquired Cystic Kidney
Disease (also called ACKD)
 It is often associated with
kidney failure and dialysis.
 People with ACKD usually
seek help because they
notice blood in their urine.
 This is because the cysts
bleed into the urinary
system, which discolors
urine.
(Polycystic Kidney Disease Foundation)

7. 1.Polycystic kidney
disease (PKD):
• is passed down
through families
(inherited), usually as
an autosomal
dominant trait.
• If one parent carries
the gene, the children
have a 50% chance
of developing the
disorder.
2.Autosomal dominant PKD:
• occurs in both children
and adults, but it is much
more common in adults.
• Symptoms often do not
appear until middle age.
• It affects nearly 1 in 1,000
Americans.
• The actual number may
be more, because some
people do not have
symptoms.
U.S. National Library of Medicine

8.  Persons with PKD have
many clusters of cysts in
the kidneys. What
exactly triggers the
cysts to form is
unknown.
 A family history of PKD
increases risk for the
condition.
An autosomal recessive:
• It appears in infancy or
childhood.
• This form is much less
common than autosomal
dominant PKS, but it tends
to be very serious and
gets worse quickly.
• It can cause serious lung
and liver disease, end-stage
kidney disease, and
it usually causes death in
infancy or childhood.
U.S. National Library of Medicine

9. PKD is associated with the
following conditions:
• Aortic aneurysms
• Brain aneurysms
• Cysts in the liver,
pancreas, and testes
• Diverticula of the colon
• As many as half of
people with PKD have
cysts on the liver.
U.S. National Library of Medicine

10.  PKD is found in all
continents and
amongst all ethnic
groups
 PKD is hereditary or
a family disease.
Although not all
members of the
family will inherit it,
everyone is
affected , at least
emotionally
http://www.renalresource.com/booklets/pkd.php

11. ADPKD
between the ages
of 30 and 40, but
they can begin
earlier, even in
childhood
In severe
conditions (35-
55%) (r5)
prevalence of
ADPKD of 1 in 1,000
persons among
children and adults
ARPKD
in the earliest
months of life,
even in the
womb
neonates 30%
to 50%
perinatal
mortality 43%
prevalence of
ARPKD of 1 in
10,000 neonates
and children
ACKD
About 90 percent
of people on
dialysis for 5 years
develop ACKD
---------
-------
Age or ethnic
group
(Appearance of
Symptoms )
Mortality Rate
People affected
(Polycystic Kidney Disease Foundation)
https://www.clinicalkey.com/topics/.../polycystic-kidney-disease.html

12.  Most people do not develop symptoms
until they are 30 to 40 years old.
The first noticeable signs and symptoms may
include:
 Back or side pain
 An increase in the size of the abdomen
 Blood in the urine
 Frequent bladder or kidney infections
 headaches related to high blood pressure
 High blood pressure is the most common
sign of PKD.
 Fluttering or pounding in the chest
 About 25% of PKD patients have a so-called
floppy valve in the heart, and may
experience a fluttering or pounding in the
chest as well as chest pain.
(Polycystic Kidney Disease Foundation)

13. 1.Ultrasound
• If someone at risk for
• PKD is older than 30 years
and has a normal
ultrasound of the kidneys,
he or she probably does
not have PKD.
2.CT scan (computed
tomography scan)
• May detect smaller cysts
that cannot be found by
an ultrasound
(Polycystic Kidney Disease Foundation)

14. 3.MRI (magnetic resonance imaging):
• MRI is used to measure and monitor
volume and growth of kidneys and
cysts.
4.Gene linkage analysis:
• Special blood tests on at least three
family members can be done to
get a diagnosis in the at-risk
individual.
(Polycystic Kidney Disease Foundation)

15.  At present, there is no cure for PKD.
 Many supportive treatments can be
done to help prevent or slow down the
loss of kidney function These include:
 careful control of blood pressure
 prompt treatment with antibiotics of a
bladder or kidney infection
 lots of fluid when blood in the urine is first
noted
 medication to control pain
 A healthy lifestyle with regard to
 Smoking cessation
 Exercise
 Weight control and
 Reduced salt intake
(Polycystic Kidney Disease Foundation)

16.  Currently, no treatment can
prevent the cysts from forming or
enlarging.
(U.S. National Library of
Medicine)
 Reducing salt intake helps
control blood pressure in PKD
patients who have high blood
pressure.
 A diet low in fat and moderate in
calories is recommended to
maintain a healthy weight.
 Speak to your doctor or a
dietician about other changes to
your diet
(Polycystic Kidney Disease Foundation)

17.  It is difficult to talk about this disease as a family,
there are qualified counsellors who understand its
inheritance pattern and implications of such a
diagnosis
 Counsellors can assist families to retain maximum
productivity and acceptance whilst coping with
what is difficult and challenging situation.
 IT is important that patients discuss their disease
concerns with doctors.
(Renal Resource centre)

18. References:
1.Renal Resource centre: www.kidny.org.au/renalresources
2.Polycystic Kidney Disease Foundation: www.pkdcure.org
3.U.S. National Library of Medicine : U.S. Department of Health
and Human Services National Institutes of Health
4. https://www.clinicalkey.com/topics/.../polycystic-kidney-disease.
html
http://www.renalresource.com/booklets/pkd.php
5. Patient.co.uk http://www.patient.co.uk/doctor/autosomal-dominant-
polycystic-kidney-disease