Genetic testing in the UK: Hi. I'm... - PKD Charity for A...

PKD Charity for Autosomal Dominant PKD

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Genetic testing in the UK

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Hi. I'm recently diagnosed. Aplologies in advance for asking too many questions or covering old ground...

In my first face-to-face meeting with my UK NHS nephrologist I was keen to discuss genetic testing for ADPKD, as 2 of my 3 children (aged early to mid-30's) have already started their own families and are keen to find out if they have inherited ADPKD from me. They are keen to have further children, so they need to know the risks.

I had read that the usual approach in these circumstances would be for me to be tested, and then my kids would be tested, with my results used as an indicator for them.

I was surprised that my consultant was not aware of this approach and was reluctant to refer me to the gentetics team, suggesting they would usually reject such a request.

If anybody has experience on this topic in the UK I would love to hear from you.

Thanks,

Mike

5 Replies

I should have mentioned that my children have now had an ultrasound scan showing kidneys are normal size, no cysts. My understanding is that this DOES NOT show categorically that they have not inherited PKD - because PKD may not present until they are older (40's?). In fact, my own PKD was diagnosed (very recently) as a result of an ultrasound scan for an unrelated issue, which showed significantly oversized kidneys and many cysts (and confirmed by MRI scan). My kidney function (eGFR) is currently normal. Thanks.

This is a very good sign. Cysts begin to form before birth, so it's very likely your children do not have PKD.

Hello,

For my part, I saw several nephrologists over 20 years and only one ever mentioned testing to me, and that was after I had my own children, so didn't know it was a 'thing'. So either it is something nephrologists don't know about or perhaps it is not so high on their concerns.

Best wishes and good luck.

Since your mentioning children - now it's already possible to prevent your children from having PKD if you have ADPKD. I don't know what the procedure is called and whether it's available in your country. I guess it's similar to artificial insemination combined with genetic testing.

Hello,

I agree with Buckwheat, it would be rare to find that they have PKD if they have no cysts as children. Fingers crossed. Thank you for your comments and replies.

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