Genetic Testing for PKD1 vs PKD2

[wirivergirl]

Has anyone gone through genetic testing to determine whether you have the PKD1 vs. PKD2 mutation? My nephrologist is thinking about requesting the test to help determine how quickly my PKD will progress. I'm 51, ADPKD Stage 3 with an eGFR of 31. Thanks.

[Mightynight]

Hi there. Its pretty likely that you have PKD1 given the staging you are at at the age of 51. Is this diagnosis of yours a new one? I guess that would be the only instance in which it would be necessary to try and work out what type of PKD you have, as with PKD1, the average GFR loss was, iirc, 5 points a year. With ESRD defined at 15 and lower, that would put you at around 3 years until kidney failure with PKD1, but longer if you had PKD2 - the thing is, unless you have some other medical complication that could have negatively impacted your kidney function, you are already quite far along (normal being 90-100, but typically more than this), and that would be indicative of PKD1.

Have you had any ultrasounds done?

[PKDC-Admin Partner]

If your doctor is willing to request a genetic test, then you should consider it.

The results can be helpful when combined with your rate of kidney function decline.

Gene tests are generally hard to obtain and many of us never get one.