I'm so confused about this disease - PKD Charity for A...

PKD Charity for Autosomal Dominant PKD

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I'm so confused about this disease

JoanneManning
JoanneManning

hello everyone! I am hoping someone can shed some light on this for me. I was diagnosed with ADPKD possible type 2 about 6 months ago. As far as I can tell no one in my family has ever had it.

My sisters are being tested now. In February on 2016 I had an abdominal ultrasound and the report reads in part: "no obvious solid or cystic lesions of the kidneys are noted" In 2018 I am told I am loaded with cysts and may need to try this new medicine....Tolvaptan.

I have no symptoms except for chronic pain in my lower left back. My kidney functions are normal. Is it possible there has been a mistake made somewhere? I was diagnosed from 2 MRI's done in August of 2017 and February of 2018.

Many thanks for any help you may have. I have this low level fear in my heart every waking moment.

8 Replies
Hidden
Hidden

A small number of people, about 5% of cases gain pkd through genetic mutation which appears to be your problem. Having it means you can pass it on despite being a mutation case. The back pain is very likely to be pkd. The 2016 scan may not have been done properly as cysts do not suddenly appear however in type two they appear later in life. You would need to assess all three scans to be certain. Be aware cysts can be microscopic and ultrasound machines may not pick up small but visible cysts say 1 or 2mm so the answer is not certain. Whatever the facts remain unchanged sadly. Genetic blood tests would have showed it up. I have type 1 and am on dialysis and 70% of my mothers side of my family so I do know quite a bit about the disease. My brother is on tolvaptan and participated on the trial. Its a good drug if you can take it and does reduce cyst size but can affect the liver a little and you must drink a lot of fluid. There are other things you can do to help get the cyst reduction but as yet tolvaptan seems to be the best. Avoidance of caffeine and nsaids plus careful blood pressure management can also help a bit. Good luck.

JoanneManning
JoanneManning in reply to Hidden

Thanks so much for this reply. I think I am in total denial because I have no symptoms,

not even high blood pressure.....just the back pain. I did fax that report to my nephrologist so he can see where it says I had no cysts in 2016. Thanks Mark!!

atropa
atropa in reply to Hidden

There's no good evidence for coffee being harmful in PKD.

Hi Joanne,

strange wording on the ultrasound report - maybe it means they didn't find any big enough cysts, which would be a good sign. If the diagnosis is based on 2 MRIs, that's pretty certain I'm afraid. MRIs are very accurate. It should say what size the bigger cysts are. Having normal blood pressure is great news, that's usually one of the first things to go up. If all your cysts are small and your blood pressure low, you may stay healthy and relatively symptom free for a long time. Tolvaptan is not usually offered at the early stage of the disease tho. Best would be to discuss it with your nephrologist, he'll have all the information.

JoanneManning
JoanneManning in reply to atropa

thanks atropa. I have an appt. with my Neph. at the end of the month. Its hard to live with daily uncertainty, my last appt. with the neph. he seemed to want to start me on this medication. I am just worried that in 2 years I went from no cysts to "numerous" at the age of 57.

atropa
atropa in reply to JoanneManning

That's good that you have an appointment, hopefully they'll explain things. It's more likely the cysts weren't visible 2 years back. It's not so much the amount of cysts that counts, but the size and overall volume.

JoanneManning
JoanneManning in reply to atropa

ok, thanks for that...I cannot seem to get any good answers from the doctors...I went from a gastroenterologist to a heptologist to the nephrologist and I don't really know what my kidneys look like; just that I have ADPKD and PLD. I don't want to overact but its on my mind every single day. Thanks for the support!!

atropa
atropa in reply to JoanneManning

I wish you luck, hope you get your answers!

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