ADPKD

Autosomal Dominant Polycystic Kidney Disease aka 'ADPKD' is the fourth leading cause of chronic kidney disease, affecting about 1.6% of renal patients.

What does ADPKD mean?

Source: PKD Foundation

Autosomal - it's an equal opportunity genetic mutation - it doesn't matter if you're male or female
Dominant - you have a 50/50 chance of receiving it from a parent with ADPKD and you have a 50/50 chance of passing it along to a child.
Polycystic - the disease creates many fluid-filled cysts
Kidney - the affected organ and
Disease (I think you have that one figured out)

So ADPKD is an insidious (emphasis my own) genetic mutation inherited from a parent that causes the formation of multiple cysts on your kidneys.

There is no cure for ADPKD. Other than controlling blood pressure and living a healthy lifestyle there's really nothing you can do to slow the disease's progression. Once you have it, you have it.

As the disease progresses, the cysts increase both in number and size. Eventually the cysts displace the actual kidney tissue which is why function will decrease. A normal kidney is about the size of an adult's fist. By the time you reach end stage renal disease, EACH kidney can be the size of a football, weighing up to 30 pounds.

Source: University of Kansas

Imagine carrying 60 extra pounds around your mid-section. Yikes!

Some people with ADPKD will get a 'PKD' belly which could be construed as a beer belly (if you're male) or a pregnant belly (if you're female).

While in the past there was really nothing you could do to try to slow down the progression of the disease, now we have Tolvaptan aka Jynarque (see page on Tolvaptan for more detail). After running the numbers on my own situation, I figure the drug should delay end stage for two to three years.

Mid-Stage 4 - right around eGFR of 20 - you should decide if you want to be place on a transplant list. If you do, find a transplant center that aligns with your needs and then set up an appointment to be reviewed for placement on their list. It's a serious affair and it takes the better part of a day. Some centers have age restrictions (it's better to be younger) as well as weight restrictions (it's best not to be overweight, obese or morbidly obese). Something else to consider is whether you want your native kidneys removed. Some centers won't do it. Or if they do, they won't remove them during the transplant surgery. Unlike with other forms of CKD, ADPKD kidneys don't shrivel after transplant. The cysts on PKD kidneys continue to grow. This is why I'll be choosing Mayo as my transplant center; (I believe that) they will remove the native kidneys as part of the transplant surgery.

Once you reach Stage 5 (eGFR of less than 15%) and haven't been fortunate to either be called up for transplant or found a live donor, you need to think about dialysis. From what I can tell there's no 'set in stone' criteria for when you would start treatment. But generally it's somewhere between an eGFR of 5 and 10.

Comments

It's getting real...

I looked at my phone messages on Monday night and was excited to find a call from the Mayo Clinic. Would they tell me that I had to wait for further deterioration before I could be evaluated for transplant? Or would they tell me to make the drive to Rochester to go through a battery of tests and meetings? It turned out to be the latter. Yay! They're going to evaluate me for transplant in April! Wait a minute. They're going to evaluate me for transplant... Crap. As they say in the movies (?), shit's getting real. I'm trying to stay positive, telling myself that this way I'll be able to get my name on the transplant list as soon as my eGFR hits 20. I'll be able to maximize my time on the list. But every so often, the positivity slips and the fear and anxiety appear. And the questions. All the questions... Will I be able to keep working? Will I be able to afford this? How will this affect my retirement? Will I be able to retire early? How will I pay...

Truth

The need is real! I don't know if it's because prior to Tolvaptan I routinely used mind over matter to delay my trips to the restroom, but I think I'm doing okay these days. Is it possible that I built up bladder muscles over the years? Don't get me wrong, the need to pee is omnipresent. But it's one of those things where I can make note of it, finish what I'm doing (or finish a couple more things) and then make my way to the facilities without the fear of letting things fly. But I'm not stupid. You'd better believe I'm making the restroom my last stop before starting my 45 to 60 minute commute to/from work. A soggy crotch is NOT becoming.

Round 2 deja vu

My doctor decided to keep me at the initial 45/15 mg dose for another months so I'm anticipating a similar water consumption. Here are the first four of seven (?) or eight (?) five gallon bottles of water. My local grocery store has a water bottle fill station for an extremely reasonable 39 cents a gallon. The frugal side of me thinks I should invest in reusable water bottles and take advantage of the savings. The lazy side of me thinks that it'd be a total hassle to wash the bottles, keep bugs and dust from falling into them before I'm able to refill them, remember to take them with me to the store (I can't even remember those reusable shopping bags) and then stockpile a source of bottle caps. It's just so much easier to buy these recyclable five gallon bottles. Lazy beats frugal.

Test tube kidneys?

While I'm sure that Miromatrix would shudder at my description, it looks like they're developing the equivalent of a test tube kidney which could be used for transplant. While the science and bioengineering behind it is extremely complex, this is how I understand it. Miromatrix uses decellularization and recellularization technology to create a transplantable kidney. Huh? They take an dead organ - it doesn't even need to be human - and using detergents (I'm guessing they're stronger than Dawn ;-) ) they strip away all the cells. What remains is the kidney's extracellular matrix (collagen, enzymes and glycoproteins) and all its chemical cues. Then the "generic" organ is repopulated with the transplant candidate's cells, eliminating the risk it will be rejected upon implantation. Early studies have shown that it takes from four to eight days to culture the transplantable kidney and, even better, the new organ produces urine when tested. B...

It's a family affair

Both of my brothers have ADPKD as well. The odds of a PKD parent having a child with PKD are one in two. The odds of having two with PKD are one in four, or 25%. Three? a 12.5% chance. We "beat the odds" (i.e. the PKD is strong in this line). Thankfully - for me - my PKD is less aggressive (although still not good). While I have a bit of a "PKD belly", it's not excessive. And instead of true pain, I only suffer from discomfort. Not so for my little brother. Despite being nine years younger, his kidneys are MUCH larger. You can actually see the outline of them on his belly. And instead of discomfort, he experiences true pain. So much so that he recently went in for surgery to have the size of some of his larger cysts reduced. The surgery is called Percutaneous (through the skin) Sclerotherapy and is an outpatient procedure. Larger cysts are identified through a CT scan or MRI, during which the doctor inserts a needle to aspirate (drain) and then s...

My Two Gallon Habit

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