Dr. Spry. My wife had a child with her previous husband that was born with PKD and died a year later. She had another daughter with him that is 28 years old now and we had a son together who is now 19 years old. My question is what is the best way to find out if my step daughter and my son are at risk for developing PKD. My assumption is that we should get my wife tested to see if she is a carrier. However without any medical insurance I am afraid that genetic testing would be impossible due to lack of financial means. Thank you so much for taking the time to help those in need.

There are two possibilities.  This could be either autosomal recessive Polycystic Kidney Disease, (ARPCKD) or this could be early onset of autosomal dominant Polycystic Kidney Disease (ADPCKD).  If this is ARPCKD, the only way to really tell is for your wife to have genetic testing.  Normally the onset of ARPCKD is very young, so your son and daughter should have manifestations by now if they had the disease, so this is unlikely.  If this is ADPCKD with early onset, the best way to check is for your wife, daughter and son to all have a kidney ultrasound examination.  If your wife has the disease, it should show up on the ultrasound.  In the case of your son and daughter, they might have large enough cysts to be seen on ultrasound and this would be the least expensive way to screen for the disease.  Cysts grow with age, and most individuals should have cysts large enough to be seen and diagnose by age 30.  Genetic testing can be done, but is very expensive.

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