Genetic counselling for adult polycystic kidney disease. Ultrasound a useful tool in pre-symptomatic diagnosis?

Abstract

The reliability and sensitivity of ultrasound for the screening of asymptomatic children of patients with known adult polycystic kidney disease (APKD) was assessed and this technique was compared with IVP [i.v. pyelography] and conventional laboratory techniques. Ultrasound appears to be at least as sensitive as IVP for identifying carriers of the gene for polycystic kidney disease. The identification of about 50% of a group of 21 asymptomatic individuals-at-risk in the 21-30 yr age group as gene carriers, both with ultrasound and IVP, is promising for the early detection of this disease and therefore for genetic counseling in the future. This is the 1st step toward the construction of an age-specific detection curve for gene carriers, which is necessary in order to be able to calculate the probability that symptomatic subjects-at-risk carry the APKD gene.