EPIDEMIOLOGIC DATA, CLINICAL-FEATURES AND PROGNOSIS OF ADULT POLYCYSTIC KIDNEY-DISEASE IN A FRENCH AREA

Epidemiological study on autosomal dominant polycystic kidney disease (ADPKD) was undertaken in a French region from 1988 to 1993. This surv ey was led in a population af 410 000 inhabitants and 84 kindreds with ADPKD and 296 affected members were studied. Prevalence of ADPKD in t he studied region was calculated to 1/1111 inh. Renal prognosis was ev aluated according to the Kapian-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 a nd 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 AD PKD was received on the renal prognosis of the disease in affected des cendants was evaluated. Anticipation of ESRD for at least one offsprin g inheriting ADPKD from parent was found in 15 (38%) out of 39 familie s, without genetic imprinting linked to gender. Mean survival to ESRD for fathers transmitting ADPKD to offspring (52 +/- 10 years) was sign ificantly earlier compared to that for mothers transmitting ADPKD (61 +/- 10 years, p < 0,001), therefore that for siblings inheriting the d isease from their fathers (sons: 49 +/- 7 years, daughters: 51 +/- 9 y ears) 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 disea se of the liver (APLD) was studied in 82 kindreds with 158 ADPKD affec ted members by ultrasonography and/or CT. In patients with APLD, 49/8 4 158,3%) were females compared to 46/74 (62,2%) in those without APLD . Familial APLD (at least 2 affected members and all with APLD) was de monstrated in 22/27 APLD kindreds (81,5%). Familial ADPKD without APLD (at least 2 affected members and all without APLD) was demonstrated i n 12/12 kindreds (100%). Renal prognosis of ADPKD in 84 APLD pts was c ompared 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 ins). The occurrence of stroke in ADPKD patients was documented in 24/231 pts (10.4%) from 11/82 kind reds (13,4%). Family history of cerebro-vascular event was found in 4/ 11 kindreds (36%).