Autosomal dominant polycystic kidney disease: early diagnosis and data for genetic counselling
Milutinovic, J.; Fialkow, P.J.; Phillips, L.A.; Agoda, L.Y.; Bryant, J.I.; Denney, J.D.; Rudd, T.G.
Lancet 1(8180): 1203-1206
1980
ISSN/ISBN: 0140-6736 PMID: 6104032 Document Number: 154669
Because the onset of symptoms in patients with autosomal dominant polycystic kidney disease is generally delayed until adulthood, genetic counseling is imprecise. To identify patients early, 261 offspring of subjects with the gene for polycystic disease were tested. Agreement between the results of excretory urography with nephrotomography and radionuclide imaging was excellent. In the 15-19 yr age group, polycystic kidney disease was diagnosed in only 30% of 33 subjects at risk, whereas the expected figure was 50%. The disease was diagnosed in 57% of 228 subjects at risk who were aged over 19 yr. When the probands were excluded, this figure was 43% and did not differ significantly from the expected 50%. Persons at risk aged over 19 yr who have normal urograms and radionuclide images have less than a 5% chance of having inherited the gene for polycystic kidney disease.