[Genetic renal disease and psychological counseling. Life experience and expectations of patients].

The AIRG association (Association for Information and Research on Genetic renal diseases) developed a questionnaire for members in order to apprehend and understand the life experience of affected persons with genetic renal diseases and to evaluate the needs in terms of psychological counseling. These renal diseases have very diverse symptoms and individual and family life history are very different. None the less the difficulties encountered have points in common.

Comparison between siblings and twins supports a role for modifier genes in ADPKD.

Background: Autosomal-dominant polycystic kidney disease (ADPKD) is characterized by intrafamilial variability in renal disease progression, which could result from a combination of environmental and genetic factors. Although a role for modifier genes has been evidenced in mouse models, direct evidence in ADPKD patients is lacking. The analysis of variability in affected siblings and monozygotic (MZ) twins would help evaluate the relative contribution of environment and genetic factors on renal disease progression in ADPKD.