[Genetic renal disease and psychological counseling. Life experience and expectations of patients]. / Maladie rénale génétique et accompagnement psychologique. Vécu et attentes des 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. The persons suffering form these diseases are all confronted with different stages of the disease that evolve often to end-stage renal failure (and thus to dialysis and transplantation) and to the genetic aspects of these diseases that affect families in trans-generational patterns. Personal and family difficulties are closely interrelated and represent a heavy load for patients and their families and the need for psychological aid emerges. In terms of psychological counseling it appears that the equation between need and personal demand, or proposal coming from a third person, is difficult to manage. Every person should be informed that psychological counseling is an important aspect of global care and that it is accessible.

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. METHODS: The difference in the age at end-stage renal disease (ESRD) and the intraclass correlation coefficient (ICC) were quantified in a large series of ADPKD siblings from western Europe and compared with the values obtained in a series of MZ ADPKD twins from the same geographic area. RESULTS: Fifty-six sibships (including 129 patients) and nine pairs of MZ twins were included. The difference in the age at ESRD was significantly higher in siblings (6.9 +/- 6.0 years, range 2 months to 23 years) than in MZ twins (2.1 +/- 1.9 years, range 1 month to 6 years; P = 0.02). Furthermore, the intraclass correlation coefficient was significantly lower in siblings than in MZ twins (0.49 vs. 0.92, respectively; P = 0.003). The intrafamilial difference in the age at ESRD was not influenced by gender. CONCLUSION: These data substantiate the existence of a large intrafamilial variability in renal disease progression in ADPKD siblings. The fact that the variability in siblings is in a significant excess of that found in MZ twins strongly suggests that modifier genes account for a significant part of this variability.