To determine the possible affected family members of 40 autosomal domi
nant polycystic kidney disease (ADPKD) probands, we examined with ultr
asonography 128 asymptomatic persons at risk who were older than 13 ye
ars and had not previously been diagnosed as having ADPKD. Sixty-five
(50%) met ultrasound criteria for definite ADPKD, 60 (46%) had normal
ultrasonogram and in 3 it was equivocal. Among the 65 ADPKD patients (
mean age 33 years; range from 14 to 75 years), the complications at th
e time of diagnosis included: 29% were hypertensive, 10% had nephrolit
hiasis, 7% had impaired renal function and 6% presented urinary tract
infection. A total of 24 patients (36%) had clinically significant com
plications and 10% had more than one complication. There is a strong a
ssociation between hypertension and male gender: 13 of the 26 men (50%
) and 6 of the 39 women (15%) were hypertensive (p=0.006). Therefore,
earlier detection of the disease will permit effective treatment at an
early stage and may have long-term benefits in delaying the progressi
on of renal failure.