On Wednesday, Dec. 22nd I had the appointment with the nephrologist. I think that for the most part I got the best answers I could reasonably hope for. Here's what I learned:
To begin with, my situation is such that there aren't many absolute, definite answers about my case. I am, he said, in a "gray area" where they can't say many things for certain, but they can give me "most likely" scenarios.
It seems I do have polycystic kidney disease (PKD), but the kind I have is most likely not the most often diagnosedor the most terrible.
When PKD was first identified, it was discovered to be associated with a mutation on chromosome 16. This type of disease, known as PKD1, is a degenerative disease, growing more and more severe as the sufferer ages, until one or both kidneys shut down.
But researchers soon noticed that only about 85% of PKD sufferers had the mutation on chromosome 16. The other 15% appeared to have nothing wrong with chromosome 16. Most of these people were found to have a mutation on chromosome 4. This form of PKD, called PKD2, is not so degenerative. PKD2 can grow worse in life, but it takes longer, and isn't as severe as PKD1. While PKD1 involves very large cysts covering and enlarging the kidneys significantly, PKD2 is associated with smaller cysts and less pronounced enlargement of the kidneys. People who have PKD2 sometimes never even know it, as it sometimes doesn't cause any symptoms or problems.
There are still some PKD sufferers who have no mutation on chromosome 16 or chromosome 4. These very-rare cases apparently have defects in other areas, but the location hasn't been found yet.
The nephrologist explained all this to me, and then said I probably have PKD2, or perhaps I may be one of those people who don't have either of the identified mutations. In either case, I most likely have a less-severe form of PKD. That is to say, the disease's progress should be quite slow, and I'm not as likely to have renal failure as people with PKD1.
Consistent with PKD2, the cysts on my kidneys are small, although the kidneys are covered with them. There are cysts on both my left and right kidney, but there are fortunately no cysts on my liver, spleen or other organs.
I have still more tests coming up, and will return to the nephrologist in six weeks.