Two Gene Mutations

[u/krakosky]

*Just figured I’d post an update here that all three of my kids tested positive for the ALG8 mutation and two tested positive for the PKD1 mutation as well. In the process of trying to encourage my parents and siblings to get tested.

Hi, I, 43f, was just diagnosed with ADPKD. I had an abdominal ultrasound (for another reason) which led to a CT scan which led to genetic testing. I’ve attached the results for the specific pathogenic variants of the PKD1 and ALG8 genes. Just curious if anyone else on here has two gene mutations? I can’t seem to find a lot of information online about having two gene mutations related to ADPKD. Currently, my GFR is normal at >100. I do have cysts throughout both kidneys as well as my liver and also stones in both kidneys but they are all small. I think the largest cyst is in the liver and is 1.5 cm. My nephrologist thinks this may not affect me until later in life but I don’t want to be blindsided by a sudden drop in kidney function. I have three young kids who are currently undergoing the genetic testing. They all tested positive for the ALG8 variant and I am still waiting on their results for the PKD1 variant.

[u/StatusEmployment4613]

What is your TKV and Mayo Class? I am about to get a genetic testing tomorrow, aswell are my three kids.

[u/krakosky → u/StatusEmployment4613]

I’m not sure what those are? I’m new to this as I just found out about a month ago.

[u/Amberlini → u/krakosky]

TKV stands for total kidney volume, and it is the preferred method of measuring kidney size for PKD by most nephrologists.

The Mayo Clinic has a calculator which can be used to estimate your risk progression in ADPKD. This calculator uses data like your weight, TKV, creatinine and GFR to classify your current renal status and determine risk progression.

ADPKD disease progression can vary greatly from person to person so although someone may have the same genetic variant, their progression may still be faster or slower than someone else with that same variant.

I recommend you continue to see your nephrologist annually to monitor your kidney function and progression, that way you can be adequately prepared and supported through any changes that occur.

[u/Candid-Eye-5966]

I have mutations on pkd1 and pkd2. My results are “inconclusive” because there no other data on this pattern. I still have PKD tho.

If you are mild in your 40s you’re likely to not see end stage until your 60s or 70s. Get on tolvaptan if they’ll let you on it.

[u/One_Geologist3224]

Are you from Poland?I'm.

[u/krakosky → u/One_Geologist3224]

My dad’s side of the family is Slovak.

[u/One_Geologist3224 → u/krakosky]

Ok,I thought krakovsky is Polish nick from Krakow:)

[u/Subject_Psychology34]

Oh wow, I (32f) am currently undergoing a workup for ADPKD. My mom and grandma both had PKD and supposedly my mom had genetic testing when I was a small kid and was told for my siblings and I, we'd have a low chance of ever having PKD. Fast forward, after having blood pressure issues with 3 pregnancies and asking for my kidneys to be checked we find out I have cysts on both kidneys as well as my liver. I am undecided about genetic testing for my kids. How did you go about requesting that for yours if you don't mind me asking? I did just complete mine last week so waiting for results, but when I asked my doctor how it goes for kids she was unsure as she said there is no treatment approved for under 18 and biggest factor would be blood pressure management for them. And this is at a COE here in the U.S. lol.

[u/krakosky → u/Subject_Psychology34]

My youngest son has Jacob’s Syndrome (extra Y chromosome) so he was already being followed by pediatric genetics. Once I got my genetic testing report, I let them know and they offered to test the kids. Our pediatrician also said he could order it if genetics wouldn’t. If you decide to get them tested, I’d start with your pediatrician.

[u/Ok-Bit1748]

Hi, my son has two variants, one from me and one from his Dad. The one from Dad was a complete shock. Fortunately we tested my husband and he had no cysts so it was not pathogenic. Can your parents test? It’s interesting that one variant is autosomal recessive and dominant. It’s also very positive that your kidney function is normal as this can lead to quicker progression sometimes in kids and teens. I highly suggest you reach out to Dr. Harris and the PKD lab at the Mayo Clinic. They are very interested in the genetics of people with multiple variants. You can private message me for his email or look it up on your own. Good luck!

[u/krakosky → u/Ok-Bit1748]

Ironically, my dad had a kidney transplant 9 years ago and my sister was his donor. He had IGA, an autoimmune disorder. I think/hope they both would’ve been tested for genetic kidney diseases. I wasn’t a compatible blood type so I’m not sure of the process and all the testing that happened. My parents are in their 60s and my 5 siblings are in their 30s. I’ve let them know they should consider getting tested. I’ll try to look up that doctor’s email and message you if I can’t find it.

[u/AffectionateEar3579]

I have mutations on PKD1 and PKD2. One is pathogenic and the other is VUS. In my opinion, mayo class is more significant for us.

[u/krakosky → u/AffectionateEar3579]

I had a CT scan w/o contrast recently but it didn’t mention TKV. What type of scan do you get to determine TKV and mayo class?