Highlights: Genetic Aspects of GU Congenital Anomalies and Renal Diseases

Abstract

The combination of new technologies and classical pedigree analysis offers the opportunity either to prevent certain severe forms of renal disease or to effect an early diagnosis in relatives who are at risk. Examples are given for each of the principal forms of inheritance which illustrate the diagnostic and preventive aspects of this approach (Table l). Direct examination of family members at risk, in addition to obtaining pedigree, is critical. Although this approach may lead to early diagnosis and prevention in some families, only a minority of cases can be detected by this approach. Ultrasound screening of all pregnancies, however, which soon will likely be routine, offers a whole new approach to the early detection and prevention of severe GU disease. The possibilities for antenatal therapy as well as interruption of pregnancy should be discussed. More data concerning the early pathogenesis and fetal pathology are urgently needed to predict which cases will respond to intervention.