Polycystic Kidney

Disease
By Hannah Gorman and Lauren Bertelson
Genetics

Primarily autosomal dominance,

because of mutated copy of PKD1 or PKD2 gene,
90% of time mutated gene is inherited, 10% of gene is a new
mutation.

Can also be inherited in autosomal recessive way

(both parents carriers, kid has 2 mutated copies of the PKHD1
gene)
The disease can also be present in a person with no known history
of it in the family after having a gene mutation.
Prevalence
1:20,000 either form of the disease

90% are dominant cases (ADPKD)

Diagnosis
-genetic testing, symptoms, ultrasound, MRI, CT can be used to see
cysts on the kidney.
Symptoms (Dominant)
high blood pressure,
blood in urine,
back/abdominal pain,
urinary tract infecion,
kidney stones.
Can lead to residual effects
like:
Loss of kidney function,
Liver cysts are common,
Aneurysms
Abnormalities in the mitral
valve, allowing back-flow of
blood in the heart.
Diverticulitis: weak walls of
the colon, or pouches lining
the wall of the colon,
Men and Women are affected
equally in terms of the
number of cysts, but women
grow larger cysts due to
female hormones.
Cystic Liver
Symptoms (Recessive)
(cysts form in last section of nephron) increased urine production in
children,
progressive loss of kidney function.
Prenatal symptoms:
low amniotic fluid levels,
enlarged kidneys on fetal ultrasound,
lung immaturity and function problems.

Immediate after birth:

enlarged kidneys,
breathing problems,
excessive urine production,
Life Expectancy
- 50% PKD patients will progress into end stage renal disease between
57-73 years old.

-Some due to kidney failure, others due to associated conditions.

If the symptoms can be controlled disease can be kind of stabilized,

Treatments
The treatments are primarily for
managing symptoms

bilateral kidney transplant

(without a transplant the
kidneys would fail)

Pain medication

https://www.linkedin.com/topic/surgeon Surgery to drain cysts

Blood pressure medication

New treatments/Research for PKD
Metformin Tesevatinib
drug to treat type 2 diabetes but in Tryosine kinase inhibitor. Slows
mice has been found to stop cyst
growth epidermal growth factor that
helps cysts grow.
Niacinamide
Form of vitamin B3. It has been show Tolvapatan
that it inhibits an enzyme that may
To increase sodium levels. Stops
promote growth of cysts.
a homone from binding to a
Pioglitazone receptor that promotes cystic
Type 2 diabetes treatment. Inhibits the growth
secretion of chloride which is a
prominent factor in cyst growth.
Limitations Associated with PKD
adjust their lifestyle to reduce
their blood pressure.
shouldnt eat foods with high
sodium.

quit smoking and exercise

regularly

http://blog.doctoroz.com/oz-experts/getting-cold-feet-quit-smoking
Coping with PKD
PDK foundation has chapters in
states with forums and
events to help support
people with PKD.

http://forums.pkdconnection.or
g

http://www.pkdcharity.org.uk/s

https://21630.bbnc.bbcust.com/connect/chapter-locations/san-antonio
upport
Links to evolution and selective
advantages
High blood pressure associated with PKD may prevent
cardiovascular disease and reduce possibility of kidney failure.