Wednesday, January 21, 2015

A Family Affair: Polycystic Kidney Disease

A Family Affair: Polycystic Kidney Disease

Polycystic Kidney Disease (PKD) is genetically linked.  That means it’s passed down through families.  If one parent has PKD there is a 50% chance that each child they have could also have PKD. 
 


PKD has two forms: autosomal dominant (ADPKD) and autosomal recessive (ARPKD). Two genes have been found to correlate with ADPKD. The PKD1 gene is located on chromosome 16 and the PKD2 gene is located on chromosome 4. The gene for ARPKD is located on chromosome 6.

The affected genes are shown below:



When there is a problem with any one of these genes, polycystin, an important protein found in the kidneys is not formed correctly. Subsequently, large cysts form in the kidneys and lead to extreme kidney overgrowth and renal insufficiency. Typically, the kidneys have an adequate filtration rate until patients are in their 30s-40s. In addition to renal problems, patients with PKD often also develop liver cysts, hypertension and in some cases, cerebral aneurysms. 




Many patients have no symptoms at the time of diagnosis. The most common symptom is hypertension, occurring in ~60% of patients. Other common symptoms include:

  • Flank (side) pain
  • Palpable kidney (a medical professional can feel the kidney by pressing on the side/back)
  • hematuria (blood in the urine)  



As cysts increase in size healthy kidney tissue is reduced and the kidneys lose their ability to filter the blood. Without the kidneys to filter blood, toxins would build up in the body.  The current treatment for PKD is dialysis (either peritoneal or hemodialysis) to filter the blood through a machine. The only other option for treatment of PKD is kidney transplant.Unfortunately, dialysis cannot be used indefinitely and patients who don't receive a transplant eventually succumb to complications of End Stage Renal Disease.



As can be seen in the image below, the cysts in PKD take over all the healthy kidney tissue and are found throughout the kidneys. In addition to destroying healthy tissue, the cysts also block the flow of filtrate in the kidneys which can lead to kidney infections.








Family Tree Image retrieved January 21, 2015 from

Chromosome Image retrieved January 21, 2015 from

Kidney image retrieved January 21, 2015 from
http://www.kidneydiseaserelief.com/wp-content/uploads/2014/02/en2476019.jpg

All information from:
Halvorson, C.R., Bremmer M.S., &Jacobs S.C. (Jun 24, 2010). Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment. International Journal of Nephrology and Renovascular Disease, volume 3. Retrieved from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3108786/

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