PKD how many types are there?

[LADscape]

I have read that PKD is hereditary. My husband has PKD but nobody else in his family has the condition. They were tested as soon as he was diagnosed but none else had it. We also checked our daughter twice and she hasn't it too. Is it possible not to have PKD but something else, and what could that be?

[tillymint16]

Hi Ladscape and welcome to this valuable site. PKD is a hereditary disease but not everyone in the family are unlucky enough to be affected. The thing to remember is that there is only one form of PKD but different strains of it and it is usually a slow developing disease too. Some are in great discomfort and some like myself only have high BP.

A good balanced diet that is low in salt, protein and potassium is essential moderate alcohol and no smoking is also recommended as anerysms in the brain and throughout the body are also common with PKD.

It could be a really mild strain that your husband has but he could also be one of the luckier ones like myself that also have inherited genetic modifiers from his other parent which slow the development of cysts down. Other common kidney problems are stones if there is swelling and pain. There will probably be someone down the family chain that were unaware of carrying the gene as people often die without knowing they’ve got it especially in the past where there wasn’t the great screening programmes we have today.

It’s good news about your daughter and good she’s aware for her future monitoring.

Hope this helps a bit

Regards Andrea

[DeanSamson]

Hi Ladscape,

Your husband seems to be in the same boat as me. Nobody else seems to have it but were stuck with it. Iv been trying to find out if any of my older family have it but with no such luck. I have 2 son's age 8 and 4 and I have t had them tested yet. They seem in great shape. So I'm not thinking of getting them checked for a little while yet. The only symptom is the odd bit off pain when I over do it for example if I do a heavy weight training session or something of that nature. I'm on no medication at all for pkd and I want to keep it that way for as long as I can. I try to keep fit and have a good diet. Easier said then done tho. My only slight concern is high bp I'm around 135/83. It is a horrible disease but there is far worse to have. All the best in good health.

[Hidden in reply to DeanSamson]

Hi.

I have pkd. There are two types of adult dominant pkd and a recessive childhood form.

Type 1 is a faster advancing form but advances at different speeds between people. Diagnosis can be in the teens. This type normally means dialysis in your forties depending on quick dealing with infections, blood pressure and a good diet. Type 2 is slower, turning up in your 60s and may never need dialysis.

Both are in my family so those with type 1 seem to get it really aggressively. I was diagnosed at 29 and on a dialysis machine 10 years later. My brother was diagnosed at 15 and still at work thanks to a new drug called Tolvaptan which slows cyst production rates so your kidneys arent as damaged. Infections cause scarring and stress also causes increased cyst growth.

Besides a good diet you need to avoid nsaids like ibuprofen, naproxen and diclofenac. You should avoid contact sports, lifting and physical jobs. If you can find a gp with renal ward experience and be referred to a renal consultant these people will be handy for you. They can help with employers.

Mark

[DeanSamson in reply to Hidden]

How do you know which type you have?

[Hidden in reply to DeanSamson]

A blood test can clarify the type for certain. It is also possible to get the disease through mutation. This happens in about 10per cent of cases. Once you have it you can pass it on to childten in 50per cent of each time. This means it is perfectly possible to have 2 children and both get the disease. Sometimes having the defective gene will also give you problems with your spine. There are two conditions linked this way.

I have got the back issues along with cysts in my kidneys and liver. They can spread to all major organs and cause heart attacks and strokes. Look for ancestors with these traits and you may find the pkd path. 70per cent of my mothers family have it or have died from it. Read usa websites as they tend to be more accurate.

[tillymint16 in reply to Hidden]

Hi SomerserMark

I also have multiple cysts in Kidney’s and liver. Diagnosed at 16 but 58 now. My mother passed away with a cerebral haemorrhage and also her brother. Have you lost any of your PKD relatives with this condition?

Regards Andrea

[Nigtt in reply to Hidden]

Sorry Mark but you are spreading some inaccurate news here. PKD1 is the more severe version of adpkd but it is not normal for you to commence dialysis in your forties! Median age of tears is 52, meaning half of people won't be on dialysis before then. It's also uncommon for it to be diagnosed in your teens unless you're looking for it.

Next, a blood test can't tell you what kind of pkd mutation you have! You'd need to do a generic test, which is costly, but the best way to establish if you have pkd 1 or 2.

Hth

[Chrissy101 in reply to Nigtt]

Thanks Nigtt, I was going to make the same points. In England you can get the genetic testing on the NHS if you are a female of child bearing age. Otherwise you have to pay for it. Definitely not just a simple blood test!

[Hidden in reply to Nigtt]

Ive had genetic testing on the nhs via blood test via the genetic diseases team at Birmingham womens hospital. My dna and genes are also on the pkd research databank. This showed I have adpkd type 1 and I already knew it was from my mothers side. We have bot types running through my mothers ancestors as weve traced the disease back hundreds of years. My brother was diagnosed much earlier but has suffered less and been able to choose a career where he has long holidays to reduce stress. Genetic testing is not charged to the patient and can predict the chances of passing on the gene but only if samples can be drawn from the extended family as well as the close relatives. This fact we only discovered after the counselling and was the entire point of the exercise as my brother was getting married at the time. Neither of us have had or will have children so that theres no chance of passing this on. He is just a year younger than me, has pkd but is still at work due to tolvaptan and not suffering the many infections I have had in the past like my mother and one aunt had. Others didnt as much and had slight y better time.

Not one of my comments are inaccurate as many websites will prove in time the pkd charity is one which does back me. I have read many respected books and magazines and have considerable knowledge of this disease both as a relative and as a patient. The norm to need dialysis for type 1 adpkd is in 40s and in my family that has been the case through every aunt, uncle and cousin I have with the disease. In my case I was 38 when due to my units negligence they almost killed me. They let me bleed from my kidneys to such an extent my hb dropped to just 5 despite weekly blood tests being done which they reviewed. This was caused by one massive infection and scepticemia. It wasnt until my partner saw my results and got me in front of my consultant and pointed to him that anaemia means I wont stop bleeding before anything was done. I have her to thank for my life not my team as she had knowledge of blood as her son was critically ill many years ago. I was given emergency blood x 4 and antibiotics iv for 2 months and started dialysis.

If you have the less aggressive type 2 adpkd it is much later and it is also possible not to need it. I wish dialysis could be avoided by everyone of course.

As you will in time realise pkd is a complex issue because it affects people differently and at different times even in the same family. This limits medical research significantly.

Good luck whatever happens.

Mark

[Nigtt in reply to Hidden]

SomersetMark, here is the established clinical research:

1. "the predominant time at which ADPKD gets manifest is above the age of 30 years and ESRD is reached at an average age of 50–60 years"

2. "Rapid ADPKD progression may be defined as onset of ESRD at age <55 years, development of stage 3 CKD at <40 years old"

Ergo, it is not "normal" for one to commence with dialysys in their forties unless they have an aggressive/rapid ADPKD (PKD1), which you would appear to have.

At 36, and with PKD, I am lucky to have normal kidney function, despite having quite large kidneys, I'm told. I do worry that it could deteriorate quickly though :/ good luck to you and your family.

[LADscape in reply to DeanSamson]

High blood pressure is a problem and you have to control it. If you are not on an anti-hypertensive therapy you should ask for it. My husband is on valsartan 160 mg. It is much easier to have any kind of brain haemorrhage in case you hit, or spontaneous. My daughter is already checked for having inherited PKD but until now (she is 8) has no signs of the problem. My endocrinologist says it is an autoimmune disease multigenetic and is not one gene responsible for that. Most autoimmune diseases have a genetic origin and is not clear how do body proteins react to several environmental factors like temperature, humidity, toxins or other.

[Chrissy101 in reply to LADscape]

Cysts frequently don't show up on scans until someone is in their 30s, particularly if they have the milder PKD2. There is no-one in my family with it, so I guess I'm one of the 10% mutations

[DeanSamson]

My nephologist said i was a sporadic mutation? All my grandparents have lived into 80s some still alive now with no pkd. If had no significant change in cysts or kidney size in the last 4 years according to my MRI scans.

[Hidden]

Dont get obsessed by size. They can be anything from microscopic to the size of a pineapple but strangely drs believe the troublesome ones are the tiny ones.

Good luck with your bp.