Anticipation of end stage renal disease in patients with autosomal dominant polycystic kidney disease in successive generations

Autosomal dominant polycystic kidney disease is a disorder, which is inheri ted in 50% of offspring, irrelevant the sex and it has a variable clinical expressivity. Initially it was noticed that the clinical expression was int erfamilial, but some studies found out that it was different. The aim of th is study was to evaluate the age of onset of end-stage renal disease (ESRD) in affected parents in comparison with their offspring in successive gener ations. We studied 60 families of patients with autosomal dominant polycyst ic kidney disease (ADPKD). The diagnosis was done by echo criteria and we i ncluded only the patients for whom we knew precisely the onset of ESRD (aff ected parent and offspring), the sex of the parent who suffered from the di sease, and offspring. We found out that the ESRD in ADPKD appears at the sa me age in affected parents and offspring (49,3 +/- 7,9 Vs 51,8 +/- 9,2, p = NS) irrelevant of the sex of the offspring. Patients with paternal inherit ance (n = 38) were diagnosed to have ESRD earlier than their affected paren ts (47,9 +/- 8,3 Vs 52,2 +/- 9,2 p < 0,05), but patients with maternal inhe ritance had no difference (n = 22) (51,9 +/- 6,8 Vs 51,2 +/- 9,4, p = NS). In all the patients (60 couples) the survival rate was the same between aff ected parents and offspring (p = NS, Kaplan-Meier test), but significant di fferences were noticed between offspring with paternal inheritance in compa rison with their parents (p < 0,05). In conclusion, we have detected that t he onset of ESRD between patients with ADPKD in successive generations: a) Occurs in offspring as in their ancestors, b) anticipation was observed in 55% of couples, c) the sex of offspring does not have any relation with the renal death and d) the ESRD in patients with paternal inheritance occurs e arlier in offspring than in their ancestors but not with maternal.