[Epidemiologic data, clinical and prognostic features of autosomal dominant polycystic kidney disease in a French region]. / Données épidémiologiques, cliniques et pronostiques de la maladie polykystique autosomique dominante dans une région française.

ABSTRACT

Epidemiological study on autosomal dominant polycystic kidney disease (ADPKD) was undertaken in a French region from 1988 to 1993. This survey was led in a population of 410,000 inhabitants and 84 kindreds with ADPKD and 296 affected members were studied. Prevalence of ADPKD in the studied region was calculated to 1/1111 inh. Renal prognosis was evaluated according to the Kaplan-Meier method in 296 affected subjects of whom 212 were members of propositus kindreds. In our region 17% of patients had ESRD by the age of 50 years, 47% by the age of 60 years and 70% by the age of 70. No significance difference was found between males and females. The influence of the sex of the parent from whom ADPKD was received on the renal prognosis of the disease in affected descendants was evaluated. Anticipation of ESRD for at least one offspring inheriting ADPKD from parent was found in 15 (38%) out of 39 families, without genetic imprinting linked to gender. Mean survival to ESRD for fathers transmitting ADPKD to offspring (52 +/- 10 years) was significantly earlier compared to that for mothers transmitting ADPKD (61 +/- 10 years, p < 0.001), therefore that for siblings inheriting the disease from their fathers (sons 49 +/- 7 years, daughters 51 +/- 9 years) and for those inheriting ADPKD from their mothers (sons 57 +/- 10 yrs, p < 0.01, daughters 55 +/- 6 yrs, p < 0.02). Prevalence of de novo mutations was evaluated to 1/135,000 inh. Adult polycystic disease of the liver (APLD) was studied in 82 kindreds with 158 ADPKD affected members by ultrasonography and/or CT. In patients with APLD, 49/84 (58.3%) were females compared to 46/74 (62.2%) in those without APLD. Familial APLD (at least 2 affected members and all with APLD) was demonstrated in 22/27 APLD kindreds (81.5%). Familial ADPKD without APLD (at least 2 affected members and all without APLD) was demonstrated in 12/12 kindreds (100%). Renal prognosis of ADPKD in 84 APLD pts was compared to that in 71 non-APLD pts, in whom mean age was not different at the time of the study. In APLD pts 28/84 (33.3%) had reached ESRD compared to 23/71 (32.3%) non-APLD pts (ns). The occurrence of stroke in ADPKD patients was documented in 24/231 pts (10.4%) from 11/82 kindreds (13.4%). Family history of cerebro-vascular event was found in 4/11 kindreds (36%).