Polycystic Kidney Disease

This web page was produced as an assignment for bioinformatics at Samford University


Polycystic Kidney Disease, or PKD/PCKD, is a genetic disorder that is caused by a mutation within a single gene on a chromosome [5]. It is an autosomal disorder meaning that this genetic mutation is not on the sex chromosomes (X or Y chromosomes). There is an autosomal dominant form and autosomal recessive form of the disease (however, I will be focusing on the dominant form of the disease).

Normal Kidney [A]

This disease principally manifests itself through renal cysts, liver cysts, and intracranial aneurysms. Although it may occur at various time and severity, PKD leads to loss of glomerular filtration, end stage renal failure, hypertension, symptomatic extrarenal cysts, and hemorrhaging from intracranial aneurysms [2].

Testing for ADPKD is usually done either through ultrasound, CT scanning (Computed Tomography), or through MRI (magnetic resonance imaging) scans. However, since this is a genetic disease, it is also possible to get DNA tested. Doctors typically only test for ADPKD if there is a family history of ADPKD, symptoms are occurring that are similar to ADPKD, or when cysts are found in the kidney when a test a test is done for some other possibly unrelated reason.

There are multiple types of polycystic kidney disorder; within autosomal dominant polycystic kidney disorder (ADPKD) there are 3 distinct types: APKD1, APKD2, and APKD3.The three types of ADPKD all have the same or similar symptoms and manifestations with varying degrees of severity. They are named based on which gene/protein the mutation occurs in.

  • APKD1 is a mutation within the PKD1 gene which codes for a protein called polycystin-1 and is located on chromosome 16 [4].
  • APKD2 is a mutation within the PKD2 gene which codes for a protein called polycystin-2 and is located on chromosome 4 [1].
  • The location of the gene mutation for APKD3 is still being determined, though it is believed to be on chromosome 8. The principal deciding factor for APKD3 is the lack of mutations in PKD1 and PKD2 genes but still possessing the symptoms of polycystic kidney disease [3].

ADPKD kidney [B]

Polycystin-1 forms a protein complex with polycystin-2 and together they regulate various signaling pathways which maintain normal renal tubular structure and function [1] [4]. When there is a mutation in either protein, polycystic kidney disease in some degree is present.

Aside from the cysts visible, it is hard to visualize the enlargement of the organs that are affected by PKD. Normally, a kidney is about the size of a fist, however kidneys with this disease grow much larger than normal. Patients with ADPKD are typically asymptomatic for years, but as they age, the behavior of the disease becomes more aggressive, and symptoms are painful and numerous [5].

Football vs. ADPKD [C]


To learn more about ADPKD and my research, click here.


Literature Cited:

[1]. “OMIM Entry – *173910 – POLYCYSTIN 2; PKD2.” OMIM Entry – *173910 – POLYCYSTIN 2; PKD2. NCBI. Web. 3 May 2012. <http://omim.org/entry/173910&gt;.

[2]. “OMIM Entry – #173900 – POLYCYSTIC KIDNEY DISEASE 1; PKD1.” OMIM Entry – #173900 – POLYCYSTIC KIDNEY DISEASE 1; PKD1. NCBI. Web. 3 May 2012. <http://omim.org/entry/173900&gt;.

[3]. “OMIM Entry – 600666 – POLYCYSTIC KIDNEY DISEASE 3, AUTOSOMAL DOMINANT; PKD3.” OMIM Entry – 600666 – POLYCYSTIC KIDNEY DISEASE 3, AUTOSOMAL DOMINANT; PKD3. NCBI. Web. 5 May 2012. <http://omim.org/entry/600666&gt;.

[4].”OMIM Entry – *601313 – POLYCYSTIN 1; PKD1.” OMIM Entry – *601313 – POLYCYSTIN 1; PKD1. NCBI. Web. 3 May 2012. <http://omim.org/entry/601313?search=pkd1&gt;.

[5]. “Just Diagnosed.” PKD Foundation. PKD Foundation. Web. 5 May 2012. <http://www.pkdcure.org/tabid/1459/Default.aspx&gt;.

Graphics Cited:


[B]. http://geneticpeople.com/?p=554


May 5, 2012


BIO 306

Samford University


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