Polycystic Kidney Disease (PKD) Support Group

Polycystic kidney disease (PKD) is a progressive, genetic disorder of the kidneys. It occurs in humans and other organisms. PKD is characterised by the presence of multiple cysts (polycystic) in both kidneys. The disease can also damage the liver, pancreas and rarely the heart and brain.

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Kidneys & Bladder
/ Polycystic Kidney Disease (PKD) Support Group

asking for information

rene
rene

hello,



I know I have pkd1 for a long time... it came very naturally because my father has it. now I am 36 with normal kidney function. I read that 50% of pkd patients will not reach dialysis. does this mostly apply for pkd2 patients? and where the scientist based on and say that? if you have updated information to share with me, please do! what I knew up to now, is that pkd1 patients reach dialysis the 5th or 6th decade of their life.

Chewitt
Chewitt
Hi rene, you might like this article. It fives more information about the types of PKD and outcomes:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3665389/?report=reader
Chewitt
Chewitt
Here's that link again. The first one didn't appear to work.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3665389/?report=reader#!po=7.14286
Chewitt
Chewitt
Still can't click on it so you'll have to copy and paste. Don't know why it doesn't work.
rene
rene
thank you! don't worry, copy paste works just fine!
largedaryl
largedaryl
Thanks Chewitt.

This link is new to me and the first I have heard of PKD1 "truncating" mutations, and their significance.

I only browsed this quickly. If anyone read closely, is it known if the "truncating" mutation is passed deterministically from generation to generation? I.e if my mother had PKD1 "truncating", then my PKD1 is also of the type "truncating"?

Also pleasantly surprised to see the mean age/ESRD of 58 for PKD1. That is one of the higher ages I have seen quoted.
Chewitt
Chewitt
From what I understand, the type of mutation eg truncating or non truncating, is inherited. There are then sometimes modifying genes which affect outcome, as do environmental factors, which explains differences in phenotype (how the mutation manifests) in individuals within families.