Just diagnosed : Hi, I would really... - PKD Charity for A...

PKD Charity for Autosomal Dominant PKD

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Just diagnosed

KA23 profile image
12 Replies

Hi, I would really appreciate some help and advice .

A few weeks ago I had a abdominal scan for bloating. The doctor called me last week to say my scan was abormal and to go see him.

He said my kidneys are enlarged 12cm. ( Im female ) with muliple simple cysts. He said its PKD. I've never heard of this and does not run in my family as far as I know.

I'e been referred to a specialist.

I'e got a 6yr old boy and tbh I'm worried sick after reading up about this.

Can you have normal cysts without it being pkd?

12 Replies
Nigtt profile image

Hey. I know how shocking it can be to hear this sort of news, as I received the same news about 1 week after my son was born. Enlarged kidneys, multiple cysts.

The normal length of a kidney is around 11cm. Are yours enlarged by 12cm or to 12cm? If you have 12cm long kidneys, that's not very big. If you have 20+cm kidneys, thats typical of PKD that has developed over a long term. My kidneys were, if i recall, 17cm and 21cm in length.

Generally speaking, their doesn't seem to be an alternative diagnosis when you have

a) cysts on both kidneys

b) enlarged kidneys

It's a defacto PKD diagnosis that won't even warrant investigation into it being something else.

The important thing to try and understand is your kidney health. Do you know what your GFR is? Do you have any other conditions like High Blood pressure or cholesterol? I had both, and am now on meds to control those. It seems that most people with PKD dont die from kidney failure, but rather the impacts of it on other organs, most notable the heart. So taking care of your health becomes very important - low blood pressure, low salt, lots of exercise and generally healthy living. The good news (if you can call it that) is that PKD isn't going to take you out tomorrow, or next month, or even next year. It's going to continue to develop very very slowly, generally.

I have looked extensively into the research being done in the PKD space and it's refreshing to see that for whatever reason, this rare disease is actually getting alot of attention.

My hope/estimation from all the trials going on now is that by 2020 there were be at least a couple of reliable treatments on the table to slow down the progression of the disease.

Like you, I dont appear to have a family history of the disease, however, in around 10% of cases it is 'de novo' i.e. spontaneous. You would have been born this way. From my discussions with a Genetic Councelor, I'm told that of the 4million or so DNA lines of code we have, we all have around 10 that are mutated/not quite right. Most times this is harmless, but for you and me, it meant we get PKD. Seems ludicrously unfair and undeserved, but it is what it is, and what we need to do is educate ourselves, take care of ourselves, and realise that this is manageable, and by the time our kids get to, say, 30, it will hopefully be irrelevant. Stay positive!

Nigtt profile image

This is nonsense. there are 2 types of Polycystic Kidney Disease - ADPKD, and ARPKD, both of which are genetic. There is no such thing as a "normal cyst" unless you are elderly and only have 1 or 2...

KA23 profile image

Hi, thank you for your replies.

My kidneys are 12cm. I have high cholesterol of 6.

Have you had your son tested?. My son is 6 and im worried sick I have passed this onto him.

Don't know my numbers but had a number of blood tests before my scan and everything came back ok. Liver , kidneys ect..

I will find out more when I see the specialist

Nigtt profile image

12cm are pretty small for PKD kidneys. How old are you? Haven't had my son tested, and not going to insist on that until he is old enough to decide for himself. In the interim he must lead the most normal life possible (just like I did for all of 35 years). Remember that the chance of passing it on is 50%, so its not guaranteed that our kids have it.

Edit: WIth high cholesterol you will probably be prescribed a statin. There is research in progress at the moment into statins being a benefit for people with PKD. I was happy to be prescribed a statin :)

KA23 profile image

I'm 36yrs old.

How did you find out, did you have symptoms?

Nigtt profile image
Nigtt in reply to KA23

I went to the Dr. one day for something completely unrelated (my ears) and when he asked if there was anything else, I said I had what I thought was like an IBS / bowl cramping - super mild but just something weird I had noticed. He sent me for an ultrasound, and some bloods, and by chance, they found PKD. Never had an issue with the bowl cramping feeling I was having again. So this was pure pure coincidence and I could easily be alive right now and not know that I have this. I did have mild hypertension as well but had no reason to believe it was related to PKD. My bloods were also normal, and as of 6 months ago, my kidney function was "super normal" according to my nephrologist.

So important to note with PKD - there are 2 sub-types depending on which gene has been affected. PKD1 & PKD2. PKD1 is 'normal' and leads to kidney failure at a median age of around 55 - around 85% of PKD people have this. PKD2 is milder, and your kidneys might never fail, or only faily in your 60's/70's. With kidneys as small as 12cm, it doesn't sound too hectic for you. A good nephrologist will be able to give you decent insight.

Don't worry too much about your child as the odds are they will be healthy and fine for a long time to come. The only time I'd consider getting my son tested and have this confirmed in him early is if there is an approved treatment that becomes available for children to stop/significantly slow down on disease progress. So long as there is nothing that I can do, I want them to just lead a normal life for as long as possible.

KA23 profile image

That sounds pretty similar to me. I thought I had ibs.

Thank you for taking the time to reply. and sharing your knowledge, i appreciate it.

atropa profile image

Hello KA23,

it is possible to have simple cysts without it being PKD. It depends on the number of cysts - did they tell you how many they found? It's not clear cut in people without a family history, but about a handful at your age can be normal. In PKD it's usually hundreds. Your GP should have referred you to a nephrologist, who will explain more. There's no need to panic, especially if you're relatively symptom free. As said above, it's a very slowly progressive disease, and there's a lot you can do to stay healthy.

Chrissy101 profile image

Hi, I know, as we all do, how scary it is to receive a diagnosis of PKD, but it evolves differently in every person affected, so predictions are rarely useful. I was diagnosed aged 60, following a CT scan for something unrelated. I have no symptoms - no proteinuria, no pain, no UTIs, no high blood pressure. I have too many cysts to count, covering both kidneys and liver and one tiny cyst just found in the pancreas. I have had ultrasounds or CT scans for 5 years now and my kidneys are not enlarged. No known family history. Cysts often don't show in younger people on scans, so unless you were going to have your little boy tested via the specialist blood test (which you may have to pay for) I doubt you could get a firm yes or no. Stick to getting advice from the PKD charity, rather than the numerous scare stories on the internet and insist on seeing a nephrologist as soon as possible. A cyst or two (or more in older people) is entirely normal, but if both kidneys have cysts the most likely diagnosis is PKD. See a nephrologist and let us know how you get on. Good luck!

jajaja profile image

I hope you have been able to learn more and feel less worried now.

Have you found a useful support group? The PKD Charity's runs a good Facebook group. Friendly, helpful people who understand what you are going through


KA23 profile image


So i have got polysistic kidney disease. My kidneys are in fact 18cms and 15cm I think. GFR 89 then it went up to 93..

Just wondering at what point do people generally start taking tolvaptan?

scott123 profile image

I started at 55 when I was diagnosed at stage II,, my gfr improved slightly, the data they have released so far (still much data to release on the biggest trial) shows that it is most effective at stage III, but still has some effect prior to that, why it isn't as effective as early stages is unknown at this point I think,,

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