Running head: AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

An Introduction to Autosomal Dominant Polycystic Kidney Disease

Evan Dagg et al.
Professor Ryan Quinn
Biology II: PH247-H07
Confederation College
April 17, 2012

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

2

Abstract
This research paper outlines: the causes of, the effects of, host propensity for, and current
treatment status for polycystic kidney disease. This work is focused primarily on the symptoms
of the autosomal dominant variety of the disease. Also included are brief observations regarding
the results of research experiments on rodents that may provide alternative future treatment
methods.

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

3

Table of Contents
Abstract
Introduction
Condition
Causes.
Propensity.
Symptoms.
Visible.
Invisible.
Treatments.
Potential.
Discussion
References
Appendix

2
4
4
5
5
6
6
6
7
7
7
8
9

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

4

An Introduction to Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease is a manifestation of two genetic syndromes characterized by
numerous and debilitating pockets of fluid permeating the kidneys. Though primarily affecting
older demographics, the disease can be present in anyone. People may display visible symptoms
as well has have hidden ones due to PKD. Current treatments are completely limited to
symptomatic ones: There is no cure for this disease.
Condition
When a human kidney is the loci for PKD the functional units of the kidneys begin to
swell with fluid: This causes numerous health issues, pain, and can eventually cause death. Once
the nephrons; which are the functional and component unit of the kidneys, are swollen with fluid
they then detach into complete cysts. While a normal human kidney is about the size of a fist, a
cystic kidney can experience pronounced growth up to the size of an American football. In some
cases of ADPKD these cysts can also appear in the pancreas, heart, liver, or brain (NKUDIC,
2010), and cause significant damage. About half of patients being treated for autosomal
dominant polycystic kidney disease end up suffering through kidney dysfunction and end-stage
renal failure (Health Scout, 2011)(Mayo clinic, 2011).

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

5

(Figure 1.)

(Figure 2.)

(Figure 3.)

Causes. This severe renal activity is due to a duo of genetic disorders. One kind is
autosomal dominant in nature, the other is autosomal recessive. In 10% of cases these disorders
are spontaneously mutated without a malformed gene contributed from either parent (KNUDIC,
2010). According to Bisceglia, M., & et al, autosomal dominant polycystic kidney disease is
characterized by a malformation of 2 or 3 genes: The two certain ones are, PKD-1 and PKD-2,
and there is some evidence towards a currently unproven PKD-3 gene. The PKD-1 gene is on

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

6

the 16th chromosome and is normally responsible to; make a protein involved in intracellular
calcium transport in epithelial cells, and to regulate the cell cycle (2006).
Propensity. ADPKD occurs in humans at an equal rate across all ethnic and
socioeconomic backgrounds (Health Scout, 2011). 90% of the 12.5 million cases of PKD are
caused by the defective dominant genes (Mayo clinic, 2011). It is important to note that the
majority of kidney cysts are non-genetic, non-disorderly, non-cancerous, and considered a
component of the aging process after venerability.
Symptoms. Very few of the symptoms are easily recognizable. Not everyone with these
symptoms has the disease, yet not everyone with ADPKD will demonstrate these symptoms. An
ultrasound or similar technique is usually the method for detecting polycystic kidney disease.
Visible. The following symptoms are discernible with minimal invasiveness. Not that
they are exclusively viewable with the naked eye, but rather that they are noticeable without
invasive diagnostics and often with the patient self-reporting these symptoms. The criteria for
this section are that these diagnostics can be performed by hand if necessary and are likely to be
part of a routine check-up without regards to internal imaging: *(Appendix)
o

Headache

Back or side pain

Frequent urination

High blood pressure

Urinary system infections

Increase in abdominal volume

Bloody urine

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

7

Invisible. Symptoms that are less able to be determined without significant diagnostic
tools include the following: *(Appendix)
o

Renal failure

Kidney stones and compacted nephrons

Cerebral aneurysms

Liver and pancreatic cysts

Colonic diverticula

Cardiac valve disease and aortic dilation

Treatments. All treatments are currently only designed to manage and reduce symptoms
as there is no prevention, or cure, for ADPKD. Surgery to reduce the size or number of cysts can
make the problem worse. Medications are primarily for pain and urination. Treatment for the
most part is limited to secondary infection, and end-stage renal failure. But there are clinical
trials on rodents with PKD which have shown promising results.
Potential. According to the Journal of the American Society of Nephrology, potassium
citrate has potential to manage the disease. It was shown to reduce cyst size and increase urine
throughput in rats with autosomal dominant polycystic kidney disease. Kidney size remained the
same and the disease did progress (Tanner, G., 1998). The chemical is available over the counter
and is commonly used as an acid buffer in soft drinks.
In 2003 The American Society for Nutritional Sciences published a paper that
demonstrated that: Overall, rats fed (High fat diets) compared with those fed LF diets had larger
kidneys, more renal fibrosis and lower creatinine clearance whereas those who obtained their
fats from soybeans had the least amount of fibrosis (Lu, J., Bankovic-Calic, N., Ogborn, M.,
Saboorian, M., & Aukema, M., 2003).

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

8

As of April 16, 2012 the U.S. National Institute of Health processed a clinical trial to
analyze whether excessive water intake slows the progression of PKD in humans (New York
University School of Medicine, 2012).
Discussion
Autosomal dominant polycystic kidney disease is life-threatening and ultimately
untreatable, but there is promise for future treatments. But several studies outlined in this paper
demonstrate considerable potential in safe, non-pharmaceutical treatments.

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

9

References
Bisceglia, M., & et al, (2006). Renal cystic diseases: a review. Advanced Anatomic Pathology,
26-56(13).
Health Scout, (2011), Polycystic kidney disease. Retrieved from
http://www.healthscout.com/ency/1/69/main.html
Lu, J., Bankovic-Calic, N., Ogborn, M., Saboorian, M., & Aukema, M. (January 1, 2003).
Detrimental effects of a high fat diet in early renal injury are ameliorated by fish oil in
han:SPRD-cy rats, American Society for Nutritional Sciences, 180-186(133).
Mayo clinic, (2011) Polycystic kidney disease, Mayo clinic.
Retrieved from http://www.mayoclinic.com/health/polycystic-kidney-disease/DS00245
New York University School of Medicine (2012). High water intake to slow progression of
polycystic kidney disease: the effect of water loading on urinary biomarkers.
Retrieved from http://clinicaltrials.gov/ct2/show/NCT00784030
NKUDIC (September 2, 2010). Polycystic kidney disease, National Institute of Diabetes
and Digestive and Kidney Diseases: The National Institute of Health. Retrieved from
http://kidney.niddk.nih.gov/kudiseases/pubs/polycystic/
Tanner, G. (July 1, 1998). Potassium citrate/citric acid intake improves renal function in rats
with polycystic kidney disease, Journal of the American Society of Nephrology, 7(9).

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

10

Appendix
(Figure 1.)
http://communications.medicine.iu.edu/files/cache/23e1d448c00a91ad0a0c01b4fd1896a0.jpg
(Figure 2.)
http://www.anatomybox.com/wp-content/uploads/2011/06/polycystic-kidney-disease1.jpg
(Figure 3.)
http://www.pkdcure.org/Portals/0/Photos/PKD_Kidney.jpg

*Bulleted symptoms lists have data taken from KNUDIC, Health Scout, and Mayo clinic (See
references)