2. • Polycystic kidney disease (PKD) is an inherited
disorder in which clusters of cysts develop
primarily within kidneys, causing kidneys to
enlarge and lose function over time.
• Cysts are noncancerous round sacs containing
fluid. The cysts vary in size, and they can grow
very large. Having many cysts or large cysts can
damage kidneys
3. DEFINITION
• Polycystic kidney disease (PKD) is an inherited
disease that affects the kidneys. Sacs of fluid
(called cysts) grow in the kidneys. If too many
cysts grow or if they get too big, the kidneys
become damaged.
• The cysts may also cause pain or may get
infected.
4. • In PKD, cysts, or fluid-filled pouches, are found primarily
in the kidney but they can also affect other organs,
including the liver, pancreas, spleen and ovary.
• Out pouching may occur in the walls of the large
intestine and in the walls of blood vessels in the brain,
where they may cause aneurysms.
• They may also be found in the abdominal wall, causing
hernias. In addition, valves of the heart may be involved,
becoming floppy and resulting in a heart murmur in
some patients.
5. CAUSES
• Abnormal genes cause polycystic kidney
disease, which means that in most cases,
the disease runs in families.
• Rarely, a genetic mutation occurs on its
own (spontaneous), so that neither parent
has a copy of the mutated gene.
6. TYPES POLYCYSTIC KIDNEY
DISEASE
• There are two major forms of polycystic kidney disease:
AUTOSOMAL DOMINANT POLYCYSTIC
KIDNEY DISEASE
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY
DISEASE
7. 1. AUTOSOMAL DOMINANT POLYCYSTIC
KIDNEY DISEASE
•The adult type of PKD (also
called autosomal dominant PKD
or ADPKD) is passed from parent
to child by an autosomal
dominant type of inheritance.
•This means that only one copy
of the abnormal gene is needed
to cause the disease. Therefore,
if one parent has the disease,
each child has a 50-50 chance of
developing the disease.
8. • ADPKD is a common disorder, occurring in
approximately 1 in every 400 to 1000
people. Only about one-half of people with
ADPKD will be diagnosed during the
persons lifetime because the disease is
often without symptoms.
9. 2. AUTOSOMAL RECESSIVE
POLYCYSTIC KIDNEY DISEASE
•The less common form of PKD
(also called autosomal recessive
PKD or ARPKD) is passed by an
autosomal recessive pattern of
inheritance.
•This means that both parents
must carry the abnormal gene,
and both must pass the gene to
the child in order for the Child
to develop the disease.
10. • In this situation, every child has a 25
percent chance of developing the disease in
a family that is at risk. The estimated
incidence is 1 in 10,000 to 20,000 people.
11. COMPLICATIONS
HIGH BLOOD PRESSURE
•Elevated blood pressure is a
common complication of
polycystic kidney disease.
•Untreated, high blood
pressure can cause further
damage to kidneys.
LOSS OF KIDNEY FUNCTION
•Progressive loss of kidney function
is one of the most serious
complications of polycystic kidney
disease. Nearly half of those with
the disease have kidney failure by
age 60.
•PKD can interfere with the ability
of your kidneys to keep wastes from
building to toxic levels, a condition
called uremia. As the disease
worsens, end-stage kidney (renal)
failure may result.
12. CONTD…
PREGNANCY COMPLICATIONS
•Pregnancy is successful for most
women with polycystic kidney
disease. In some cases, however,
women may develop a life-
threatening disorder called
preeclampsia.
•Those most at risk have high
blood pressure before they
become pregnant.
GROWTH OF CYSTS IN THE
LIVER
•The likelihood of developing
liver cysts for someone with
polycystic kidney disease
increases with age.
•While both men and women
develop cysts, women often
develop larger cysts. Female
hormones might contribute to
cyst development.
13. DEVELOPMENTOF AN
ANEURYSM IN THE BRAIN
•A balloon like bulge in a blood
vessel (aneurysm) in brain can
cause bleeding (haemorrhage) if
it ruptures.
14. Chronic pain.
• Pain is a common symptom for people with polycystic
kidney disease. It often occurs in your side or back.
• The pain can also be associated with a urinary tract
infection, a kidney stone or a malignancy.
Colon problems.
• Weaknesses and pouches or sacs in the wall of the
colon may develop in people with polycystic kidney
disease.
16. BLOOD IN THE URINE FLANK PAIN ON ONE OR BOTH
SIDES
17. Additional symptoms that may be associated with this
disease include the following:
•Drowsiness
•High blood pressure
•Painful menstruation
18. DIAGNOSTIC EVALUATIONS
Ultrasound.
• During an ultrasound, a wand like device called a transducer is
placed on body. It emits sound waves that are reflected back to
the transducer — like sonar. A computer translates the reflected
sound waves into images of kidneys.
CT scan.
• As patient lie on a movable table and guided into a big, doughnut-
shaped device that projects thin X-ray beams through patient
body. Doctor is able to see cross-sectionalimages of kidneys.
MRI scan.
• As patient lie inside a large cylinder, magnetic fields and radio
waves generate cross-sectionalviews of kidneys.
19. MANAGEMENT
• No treatment is available for the cysts caused by
PKD. If the cysts are causing symptoms, these
symptoms can be treated so patient will be more
comfortable.
• The goal of treatment is to control symptoms and
prevent complications. Treating high blood
pressure can have a dual benefit in people with
polycystic kidney disease because it can slow
the decline in kidney function and minimize the
risk that a cerebral aneurysm will rupture.
20. High blood pressure.
• Controlling high blood pressure can delay the progression of the
disease and slow further kidney damage. Combining a low-
sodium, low-fat diet that's moderate in protein and calorie
content with not smoking, increasing exercise and reducing stress
may help control high blood pressure.
• However, medications are usually needed to control high blood
pressure.
• Medications called angiotensin-converting enzyme (ACE)
inhibitors or angiotensin II receptor blockers (ARBs) are often
used to control high blood pressure.
21. Pain.
• Patient might be able to control the pain of polycystic
kidney disease with over-the-counter medications
containing acetaminophen.
22. • Any urinary tract infection should be treated
promptly with appropriate antibiotics. Cysts that
are painful, infected, bleeding or causing an
obstruction may need to be drained.
• Surgical removal of one or both kidneys may be
required.
• Treatment of end-stage kidney disease may
include kidney dialysis or kidney transplantation.
23. Aneurysms.
• If patient have polycystic kidney disease and a family
history of ruptured brain (intracranial) aneurysms,
doctor may recommend regular screening for
intracranial aneurysms.
• If an aneurysm is discovered, surgical clipping of the
aneurysm to reduce the risk of bleeding may be an
option, depending on its size.
• Nonsurgical treatment of small aneurysms may involve
controlling high blood pressure and high blood
cholesterol, as well as quitting smoking.