January 23, 2010 at 4:55 pm 6 comments

We had a meeting today with the Hudson Valley Chapter of the PKD Foundation. My pediatric nephrologist came to speak about PKD in children; ARPKD and ADPKD. To be honest it was very interesting but I didn’t learn anything.  What bothers me is that in every ARPKD conference I’ve been to they always discuss the differences between ARPKD and ADPKD. But I honestly don’t think in the ADPKD conferences they talk about the differences. And so many people are uneducated about ARPKD. I know so many more people have ADPKD but it gets frustrating sometimes.  After the whole talk today someone actually asked me if my husband or I had PKD. Seriously?? After the doctor just got through talking about the whole genetics of it.  Strange.  Then someone else who has ADPKD actually thought if his daughter turns out to also have ADPKD and marries someone with the ARPKD gene then their child could have ARPKD. Matt tells me not everyone understands it the same way or researches it as much as I do. A friend of mine said we should have promoted this seminar today for pediatricians to attend and even OBGYN’s. That would have been such a smart idea. Because honestly I’m not sure they know enough about the disease either. I’ve had more than one doctor ask me where the family history of PKD is when I say I have two children with ARPKD and I even reiterate the recessive part when I say it. To me it’s all about the lack of information and education and the misinformation that is out there about ARPKD that really frustrates me.

The main differences are:

ARPKD is recessive meaning both parents have to carry the mutated gene in order to pass it down and ADPKD is dominant meaning one parent actually has the disease.

ARPKD – there is a 25% chance every time you are pregnant to have a child with it; ADPKD – there is a 50% chance every time you are pregnant to have a child with it

ARPKD – almost always shows symptoms in the neonatal period or early childhood – doctors feel that all children with ARPKD even without symptoms do have cysts on their kidneys at birth; ADPKD – rarely shows up that early and often not until later in life – you can sometimes not show any signs of ADPKD until your late 20’s or early 30’s (for example you can have a clear sonogram in childhood and then show cysts later in life)

ARPKD – always has the liver involvement (CHF – Congenital Hepatic Fibrosis); ADPKD – sometimes has liver involvement usually with cysts on the liver and rarely has CHF

ARPKD – the kidneys appear bright (echogenic) on ultrasound and have too many cysts to count; ADPKD – usually have bigger cysts and less of them

There are many more differences between the two diseases but those are some of the basic ones.


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6 Comments Add your own

  • 1. concernedgran  |  January 23, 2010 at 9:15 pm

    I have a rather odd case and here is Aus there is EXTREMELY little information. My granddaughter was diagnosed with cysts on her enlarged kidneys, mainly the left, at 33 weeks gestation. Up until this point all pre natal checks were fine, My daughter was then monitored every week due to low amniotic fluid and delivered a week early. My granddaughter had a scan at birth and they confirmed the cysts and although bigger than normal, her kidneys were not grotesque in size. She had another scan at three months were they thought they saw a cyst on her liver as well, but said it could have been a fatty deposit. She has had regular blood tests all of which are fine and her BP, while a little high at times, is not causing any concern. Now….this is where the story is somewhat odd…there is NO, and I repeat NO history of any form of kidney disease in either side of the family, anywhere further back! We have delved into at least the past five generations and there is nothing, anywhere. The doctors don’t have an answer for us and are now saying they THINK it is ARPKD, as that is all it can be. Trying to find information on this disease is hard at best, trying to have someone know what you are talking about is even harder.
    My granddaughter is now two and half and while she is small and has a big bigger than normal belly (not too big though) she is healthy, very happy and bright. She has had just one infection and that was a few months back, but it cleared with antibiotics and her doctor was not concerned. She is now only being checked by the specialist every six months.
    I feel very alone in this. I worry for my precious granddaughter and try to find out as much as I can, but there is nothing out there…..even groups for ARPKD offer very little support wise.

    Therefore, I can identitfy a lot with your frustration on this issue…..

    • 2. Alison  |  November 11, 2010 at 7:20 am

      Hi we are in Sydney, not sure where abouts you are, but we have a brilliant team of drs here who keep us pretty well informed without scaring us too much. Our girl is nearly 6 and doing really well as far as the ARPKD is concerned, she has other issues though, but generally a well and bright little thing.
      Feel free to email me if you need any info or want to talk.

  • 3. veg  |  January 24, 2010 at 2:34 am

    They do go through the differences @ the “ADPKD” conferences, which, are for both AD & AR, btw. It’s just that all people process information differently. Some are not going to retain anything from a doctor speaking, and that is why they asked you. They wanted to hear a real person who deals with this cut through all the extraneous & tell them what they need to know. You know how to do that because you deal with it on a daily basis. At least they are asking! If you asked someone 35 years ago when my grandmother was transplanted they would’ve had no idea what PKD was. I get sick of the stupid questions, too, but at least they are asking. My personal favorite is the offers for kidneys. Um, my creatinine is 1.1. I’m good.

    You should go to the National Conference if you haven’t been. There are special sessions just for ARPKD families. I enjoyed them because they made me feel less alone. Here’s hoping to a cure in our lifetime & no more dumb questions!!!

  • 4. 3rd generation adpkd patient  |  January 28, 2010 at 12:15 am

    “But I honestly don’t think in the ADPKD conferences they talk about the differences.”

    That’s funny, because this would be where I learned the differences!!! You should come to one of the conferences sometime. Also, unfortunately, once you have the disease, people expect you to know about it & educate them. I NEVER mind sharing what I know about the disease. The more people I educate, the better.

    “I’ve had more than one doctor ask me where the family history of PKD is when I say I have two children with ARPKD and I even reiterate the recessive part when I say it.”

    That made me laugh. Doctors are DUMB. I had to educate my PCP about PKD. Honestly at this point I am more amused than anything else.

  • 5. Jessica  |  January 2, 2011 at 9:56 pm

    hi Michele I’m shocked and glad to have found your blog! maybe you can help answer my question…my husband has adpkd and my father had adpkd I got tested and showed no signs of adpkd but could I have the gene for arpkd ?…if I have a child with my husband could it be born with arpkd….or will it just have adpkd? please I’d really appreciate your help I’m very confused!!

    • 6. alison  |  May 22, 2011 at 11:37 pm

      Jessica your child would have a 50% of having ADPKD unless you have it which would make 100% i think. You may well have it if your father did and it hasnt shown up yet.


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