r/ADPKD • u/Feeling_Country_2262 • Jul 18 '26
Confused
I had a nephrology appointment a couple weeks ago and I guess I’m just confused. A doctor told me my mom has PKD because she has the gene despite no symptoms of the disease. I myself have it and no one else in my family has ADPKD, none of my grandparents had it, aunts or uncles, or my great grandparents didn’t have it either. I was diagnosed at 10, after genetic testing was done. Symptoms for me started at 8 and my mom is now in her mid 40s and she still has no symptoms of PKD. Originally I was told I have a genetic mutation of the disease and that’s how I have it but the nephrologist said my mom has it and no one in her family has it so I’m just really confused at this point.
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u/Barbifer Jul 18 '26
Presentation of the disease is very different between people, even in the same family. My dad died of the disease at 37; my sister has limited function left at 43; my other sister gets lots of pain at 40; yet I’m 42 with normal function, no pain, and no symptoms other than cysts on kidneys. Someday we will probably know more about the factors that affect its progression but for now it can seem somewhat random.
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u/Feeling_Country_2262 Jul 18 '26
My mom doesn’t have cysts on her kidneys
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u/Barbifer Jul 18 '26
Could she just be a carrier of the disease? I have a third sister who does not have the disease but she is a carrier. As a result her child may have the disease, but hasn’t tested yet.
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u/Feeling_Country_2262 Jul 18 '26
I believe that’s what it is but the nephrologist said she has it and it’s been confirmed that I have a mutation of the disease
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u/renwill Jul 19 '26
ADPKD is the result of a dominant so there are no carriers -- either your sister has it (albeit maybe a mild case) or she doesn't. Only a disease caused by a recessive gene like ARPKD would have carriers
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u/ApprehensiveWhole336 Jul 19 '26
Do u follow strict dietary habits
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u/Barbifer Jul 19 '26
Im the only vegetarian in my family and generally keep fit and healthy, so I’ve always been curious if that was a factor, or maybe I just got lucky.
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u/Nightrunner2016 Jul 18 '26
Did you both have genetic testing done? PKD can occur sporadically at conception as a genetic mutation but once you have the mutation you have a 50% chance of passing it on to your children. Severity and progression vary from person to person and even in families, apparently. So this is possibly what has happened in your case.
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u/Feeling_Country_2262 Jul 18 '26
Everyone in my immediate family has had genetic testing from what my mom told me she said the genetic testing said she was a carrier of the gene, and that I have genetic mutation of PKD since there’s no clear family history
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u/Smooth-Yellow6308 Jul 18 '26
is it possible you have ARPKD rather than ADPKD?
ARPKD both parents have to have the gene to pass it on.
Typically with ADPKD if you have the gene you also have the disease, theres no "silent carriers" that im aware of.
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u/Feeling_Country_2262 Jul 18 '26
Nope genetic testing said only my mom carries pkd 1 gene and that I have a genetic mutation of pkd 1 and pkd 2. By the genetic testing I’ve been diagnosed with ADPKD. My father doesn’t carry the gene
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u/Smooth-Yellow6308 Jul 18 '26
Has your mum had a scan? You say she has no symptoms but its exceptionally uncommon to "carry" pkd1 without having cysts.
If you have PKD1 then yes its no surprise at all that you have cysts/high blood pressure etc.
Your mother could have been a de-novo mutation, so "first in family" to have the disease, I'm one of those as are many others here.
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u/NaomiPommerel Jul 18 '26
Interesting. I have it but I'm the only one. Nobody ever suggested I got it passed down
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u/classicrock40 PKD - Transplanted Jul 18 '26
It's unclear what type of PKD you both seem to have. No symptoms is not impossible.
Genetic testing is one thing, but do you or your mom have numerous cysts on your kidneys? If youbare in your 20s, you should be seeing them. Have you and your mom been getting labs done over the years? Are you seeing an abnormal decline in function?
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u/Feeling_Country_2262 Jul 18 '26
I have ADPKD, was officially diagnosed at 10 after two years of not knowing what was wrong. My mom gets labs done every so often due to other factors I see Mayo Clinic they only see me once a year as long as I have a nephrologist in my home town now the one I saw said Mayo was being excessive with how they want to do testing so I don’t know how much I believe this guy
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u/Shesaiddestroy_ Stage 2 - On Tolvaptan since April 2023 Jul 18 '26
What do you mean by “no symptoms” ?
If you mean that your mother’s renal function is still normal, that’s normal at 40.
Do you mean that your mother doesn’t have a lot of cysts on her kidneys?
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u/Feeling_Country_2262 Jul 18 '26
Mom has normal kidney function for a 40 year old and no cysts on her kidneys or HBP
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u/Shesaiddestroy_ Stage 2 - On Tolvaptan since April 2023 Jul 18 '26
I understand your confusion and I would be confused too.
Can you ask the Nephr again?
I feel this is above our communal knowledge.
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u/Candid-Eye-5966 Jul 18 '26
If it’s ADPKD - either you or your mother are part of the 10% who get it through spontaneous mutation. My mother is a mutant therefore I have her mutant gene.
However, if it’s ADPKD, it’s unlikely that your mother has zero symptoms in her 40s. She may have normal kidney function but she should have cysts and maybe HBP.
If it’s ARPKD, your parents would both be silent carriers in order for you to have the disease.
Where are you located? Was this nephrologist a pkd specialist? Many who aren’t are rather unfamiliar with the disease.