Polycystic Kidney Disease (PKD) Support Group

In some cases, PKD is caused by a spontaneous genetic mutation. It can then be passed from that person to their offspring. I believe this is what happened in the case of my mother because she had PKD and both her her parents lived into very old age with no kidney problems. She passed the disease on to my sister and me.

Your parents might want to get tested. If they do not have the disease it is sure that your brother's case is a spontaneous one and it would be highly unlikely that you would have the disase. You can also choose to get tested. In the US this opens a can of worms in terms of insurance because it can then be considered a pre-exisiting condition for insurance but I imagine you have a more enlightened health care system in Ireland...or at least I hope so!

oh...also it is correct that there are no PKD carriers...it is a dominant gene. but the "penetrance rate" can vary greatly...that means some people experience problems in their 20's and others don't have problems itil their 60's or even later. Most people will begin to lose kidney function in their 30's 40's or early 50's.

Alinds,
The penetrance rate for PKD is 100%, meaning 100% of the people who have the gene have the disease. It's the presentation rate that varies dramatically. The terminology may seem a bit trivial but has dramatic signficance when discussing PKD.

"Penetrance" has a very specific meaning in the medical community and is used in conjunction with genetics in terms of whether someone can be a carrier of a gene, have the disease or possibly either. In the case of ADPKD you either have the disease and the gene or you don't; the penetrance rate is thus 100%.

The presentation rate (what you inadvertently referred to as penetrance) is what is incredibly variable. Some individuals present with symptoms in their 20s and some never have any syptoms whatsoever, regardless of age. There are many who never know they have PKD; it is an incidental finding during an autopsy or a discovery during the screening for another disease or injury following an accident and they never experience any problems whatsoever.

Hope this clafies the diference in the terms. Penetrance is 100%; if you have the gene you have the disease. Presentation is incredibly variably and there is no nice, neat rule for how the disease will present in each individual, even within the same generation of the same family.

Best wishes,
Ruth

It was once thought that adpkd was only on a specific gene but it is now known this is not the case. This often accounts for the variables. Most types are dominant but not all dominant forms are located on the same gene. My father was the first in family to have pkd and I'm the second. He (and I) undoubtedly have adpkd1 because of the way it has presented itself. Others who live into 80's and beyond before having kidney failure and often die of other problems do not have pkd1. It's all so interesting and who knows how many other forms they will eventually find, and hopefully that will lead to a cure.

Interesting, Ruth...I heard the term "penetrance rate" from a nephrologist over 20 years ago when I was first diagnosed with the disease. The term stayed with me all these years. It is very possible that I misinterpreted his use of the word...or even that he used it incorrectly! He was a highly respected medical professor of nephrology at Northwestern Univeristy but his native tongue was Greek...just goes to show even the most educated among us can misuse a word now and again!

Thanks for the clarification!

I just wanted to comment on your thoughts about following a Chinese medicine regimen. I am all for people looking in all directions to help with alleviating symptoms of certain diseases and even searching for alternate methods of curing certain diseases, but I wanted to give a word of caution when it comes to kidney's and Chinese remedies, especially herbal supplements or Chinese herb based "medications". There are a lot of unkowns in regards to what is actually 'in' these types of treatments and unfourtunately, there are quite a few ingredients in Chinese herbs that can be or are toxic to the kidneys. I've seen young, healthy people end up in complete and permanent renal failure over a Chinese herbal supplement. Just be cautious. Also, PKD is not a death sentence. It is very possible to live a long and healthy life, with this disease, Not everyone experiences renal failure. It is also possible to live a fulfilling life, even if you do end up in renal failure, Western medicine is working very hard on finding a treatment and someday a cure for this disease, but it is very complicated., It's not like cancer in which rogue cells are multiplying and killing your body. There isn't even a concensus on what actually turns the PKD gene on, so I find it highly suspect that any type of 'cure' can or will be found anywhere in the world for some time. Remember, over 12 million people have this disease world wide, and I am confident that there are quite a few of those people who are of Asian decent or live in Asian countries, so just be careful.
Tami

Hi,

Thanks for all your advice and pointing me in the direction of things I need to do- it is really appreciated.

Just want to clarify the "Chinese Way", we are not going down the avenue of herbs and medicine, more down the route of tai chi and espically chi gong, which in very simple terms a set of exercises which help heal and keep the body healthy. There are a number of kidney sets which help focus on stimulation of kidney function through acupressure points and chi flow. Do appreciate the advice on keeping away from herbs etc

Will keep people posted on how things are progressing

Take care

John

Hi!

I beleive that you should get checked anyways. All you need is an ultrasound.

I am the youngest of 5 and I'm the only one to have PKD.

I was told very early, that herbal products are hell on kidneys. The TCM way was out. That's when I decided to be the guinea pig. I am in the Phase III Clinical Trial of Tolvaptan. It does seem to help, but I'll never know for sure until I get my next MRI.

I do taijiquan too. What style do you do? It is very good way of exercising and energizing the body since it seems that a decrease in kidney function saps the strength out of the body.

Which kidney sets are you doing? Do you have a master for Qi Gong? I was told that medical Qi Gong should not be practiced without instruction.

Tea is a good replacement for water, but it contains caffeine. I have read that most of the caffeine is contained in the first flush. Either you pour out the first flush and drink the second or you half your cup and fill the rest with water. Whichever way you choose, you are reducing the caffeine but at the cost of flavor.

Taiji,
I'm curious.
Do you of anyone who has been healed of PKD using the Chinese medicine protocol you are involved with?
If you know anyone and can prove that there has been a true, medically confirmed healing, that would be one of the greatest medical stories ever!

Please keep us informed!
Peace and Blessings!
CoachRichie