Two Gene Mutations
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.