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Ashley Clark

Polycystic Kidney Disease (PKD)


Polycystic Kidney Disease (PKD) is a genetic
disorder causing cysts to grow on the kidneys.
These cysts consist of abnormal non-cancerous
fluid-filled sacs (See example on the right). The
first case of PKD was found back to King Stefan
Bathory of Poland in 1533. Later, it was first recorded as Brights Disease by Dr.
Richard Bright in the early 1800s, but it wasnt until the 1990s, when there was
significant finds on the disease, that it was recognized as a condition. The cysts that
PKD cause result in higher complications than any normal cyst, as they are found in
great numbers.
This gene mutation is normally inherited, but spontaneous cases have also been
found. There are two types of PKD; Autosomal Dominant (ADPKD) & Autosomal
Recessive (ARPKD). To inherit the Dominant gene only 1 parents needs to have the
disease, while both parents require carrying the recessive gene in order to pass it
down to the next generation (See pedigrees below). The PKD gene is found on
Chromosomes 14 & 6. This disease is found in all races and genders equally with an
estimated occurrence of 1 in 400 people. PKD is associated with about 2.2% Kidney
Failure cases in the U.S. yearly. They have found that men are most likely going to
experience Kidney Failure as a symptom of PKD, but women with 3+ pregnancies
have higher risks of acquiring the same chances, which makes this disease
influenced by the environment. According to Ravens Major Biology, its mentioned

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that external environmental affects the relationship between genes-the stresses on


your body can change the phenotype of the gene. The inheritance rate in all
Autosomal Dominant PKD cases is a 50% chance, where all recessive PKD cases is
a 10% spontaneous outcome. It is important to be aware of this disease, as it has an
unpredictable growth rate and is inherited to each generation. Finding a cure for
PKD means ending the following symptoms; pain, Kidney Failure, UTIs, Kidney
Stones, Pancreatic Cysts, Liver Cysts, High Blood Pressure, problems with the
blood vessels in the brain & heart, like Brain Aneurysms.

The kidneys job is to filter out waste and extra water from the blood and urine.
The filtering takes place in the millions of nephrons located within the kidneys, which

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are the basic working units of the kidney that continually regulate, reabsorb, and
excrete. Inside these nephrons, blood vessels interlink with tubules, where a
chemical exchange occurs. This exchange results in the elimination of water from
your blood to entering your urinary system.
Currently, there are no preventions that have been discovered. All that is
available are treatments for each individual symptom. The best type of prevention
is diagnosis. Knowing you have PKD will help you get ahead of the disease.
Ultrasounds, CT Scans, MRIs, and genetic testing are available as diagnostic tools.
I have the dominant or recessive gene of PKD. I havent been tested yet, so my
diagnosis is still undetermined. However, my fathers side of the family suffers from
this disease. There are 10 family members on this side of my family, including
myself, that have the potential of inheriting this disease. As of now, I know that 4 out
of the 10 have positively been diagnosed with PKD, but there are about 3 of us who
havent checked yet. Recently, my Uncle had a Liver aneurysm and fortunately
survived. He was able to receive a kidney transplant and was in healthy condition
about a year later. However, both my Grandmother and my father suffered from a
fatal Brain aneurysm due to this disease and I never realized how unnoticed this
disease was until it was highlighted as the cause during my Uncles recovery last
year. Now, that Im aware and more educated on the disease running through my
family, I have a responsibility to find out if I have the disease or if I carry the disease
so I can be prepare myself and/or future generations.

Ashley Clark

Works Cited
(Guay-Woodford, Somlo and Torres)
(N/A, PKD Research Timeline)
(N/A, Polycystic Kidney Disease)
(Raven)