Help me understand Polycystic Kidney Disease

October 18, 2012 2:52 PM

Polycystic kidney disease - what should I be asking my consultant as a newly diagnosed patient?

I've just been diagnosed with PKD and I want to get a better handle on how to think about it. I've read articles on the basics, but it's hard to know how much weight to put on different parts of the information.

I have an appointment with a renal specialist coming up. YANMD, but any advice for what to ask about would be appreciated, given my medical background below:

I'm male, white, early 40s. I'm in good general health except for slightly raised BP. Current kidney function is normal. My creatinine is slightly raised. The cysts were found in a scan for kidney stones (I have some of those too, also asymptomatic).

I guess I'm mainly worried about how fast things might progress, how soon I might have serious symptoms of kidney problems, and what the likelihood is of other conditions that are related to PKD (like cardiovascular problems or aneurysms). The consultant was reassuring on the phone, but I'd like to be a bit better prepared for what's worth pushing and what is actually not likely to be a problem in practice.

Bonus question: if you have PKD, how did you deal with this initial phase of uncertainty?

posted by anonymous to Health & Fitness (5 answers total)

With PKD, things really don't progress all that fast. Other people with other diseases must swoop into action and they work to secure immediate treatment with the hope of immediate results, but for us, it's a waiting game. And it's weird to live like a ticking timebomb. There's no cure, there's no real prevention. A lot of uncertainty. We just must be very careful to manage blood pressure, never smoke, and stop overdoing it on things like alcohol, protein, and salt.

But, yeah, the initial uncertainty was very hard for me. I had just turned 30 and suffered a huge breakup, and then I found out about the PKD. Boom, boom, boom. I freaked out in a big way, moved across the country, behaved terribly (because I was convinced I was dyyyyyying), and regretted it (because I wasn't dying after all). So now I am back to normal. I find that I hedge my bets a bit more now. And I take chances when I can afford them -- for example, I spent the summer in Alaska, because when else would I be able to throw off work for a summer and live in Alaska?

My best advice is to have a good primary care doctor who understands the disease and can help you track it. My PA treats six PKD patients and she's wonderful at keeping up with current research. You will likely be encouraged to speak with a nephrologist, but, quite frankly, nephrologists are terrible people. They're just number crunchers, all math and no heart. When you're this early in, there's nothing a nephrologist can do to help you besides run stats on you. You will need them eventually, but right now, it's just very expensive, very frustrating noise.

While we have an increased chance of aneurysm, it's much less likely to happen to those of us who don't have a family history of aneurysm. My first nephrologist rushed me in for scans immediately after my diagnosis, and that scared the crap out of me. But since I don't have a family history of that, it's really one of the last things I worry about.

My family's been amazing throughout this whole chapter of my life. While there are some examples of spontaneous mutation, PKD is a hereditary disease. Do you have other family members with PKD? It's been helpful for me to talk to my dad and understand his experience. It's also reassuring to know that while there's no cure, technology improves every day.

Memail me. Happy to chat more. It's really not so bad.
posted by mochapickle at 3:22 PM on October 18, 2012 [1 favorite]

Oh, and questions you should be asking:

- What are your current numbers for creatinine and BUN?
- What is your current BP and should you be on BP meds? (losartan is amazing)
- Kidney stones - how likely is it that you will pass them, and will you need meds? (i have them but they are large [literally too big to fail!] so they will likely never pass.)
- How often will you need scans/bloodwork/urinalysis?
- How long do you need to collect information before you can chart a trajectory of what to expect in the coming years? (for me, it took about 4-5 years of charting to get a general idea.)
- Can the renal specialist recommend a good PCP who is well versed in PKD? (Some people opt to make their nephrologist their PCP as well, but ymmv.)

Also, if you are having any symptoms (back pain, fatigue, nausea), ask about them.
posted by mochapickle at 3:39 PM on October 18, 2012

PKD is a hereditary disease.

Yes, most certainly. You should ask if other family members should have kidney imaging or other assessment. It's not usually necessary to have gene studies to determine the specific mutation but these are available and may be indicated in some circumstances. This is a decent enough overview and the links at the end are for both patient support organizations and technical sites if you are interested in those aspects of PKD.
posted by beaning at 5:49 PM on October 18, 2012

The National Kidney Foundation, which has local offices in several states, is a great source of information and support for people with kidney disease in the U.S. (I don't have kidney disease but have worked professionally with people at NKF about a condition that can lead to kidney failure and found them to be very helpful and knowledgeable, including by helping people connect with good healthcare practitioners and think through treatment options and so on.)

If you're outside the U.S., NKF might still be able to suggest some international resources.

The NKF site also links to the Polycystic Kidney Disease Foundation, which may have more targeted information about PKD that could be helpful. (Also appears to have a presence in some countries outside the U.S.)

Good luck as you move through this initial phase and beyond.
posted by stillwater at 8:15 PM on October 18, 2012

The Mayo Clinic patient info page on what to expect and how to prepare for an appointment has a list of questions.
posted by lulu68 at 7:39 AM on October 19, 2012