title: Adult polycystic kidney disease: presymptomatic diagnosis for genetic counselling.
abstract: We evaluated 30 first degree relatives of 9 patients with end-stage renal disease secondary to adult polycystic kidney disease. The diagnostic accuracy of renal ultrasonography was compared with intravenous pyelogram with nephrotomography. In 27 patients the two tests were in agreement. In 3 patients both tests were abnormal but findings on IVP did not completely agree with ultrasonography. For early detection and genetic counselling, we recommend ultrasonography as the initial screening procedure for the evaluation of asymptomatic family members of a patient with APKD. IVP should only be considered if ultrasonogram is abnormal but not diagnostic of APKD.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D007668:Kidney / Q000000981:diagnostic imaging; D008297:Male; D008875:Middle Aged; D007690:Polycystic Kidney Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D014056:Tomography, X-Ray; D014463:Ultrasonography