Characteristics and distribution of intracranial aneurysms in Autosomal Dominant Polycystic Kidney Disease patients compared to the general population

Abstract

Autosomal Polycystic Kidney Disease (ADPKD) is the most common genetic condition associated with intracranial aneurysms (IA). The aim of this study is to compare sporadic (SPO) and ADPKD aneurysms in term of distribution and multiplicity. ADPKD-patients with IA from the Geneva @neurIST, the UCAS and the Novosibirsk cohort, and from a review of the literature (2016-2019) were included. ADPKD-patients were compared to SPO-patients from the @neurIST and the UCAS cohort. IA-locations were defined as : internal carotid artery (ICA), middle cerebral artery (MCA), anterior- and posterior communicating artery (Acom and Pcom), pericallosal artery (Peri), posterior circulation (PCir), and other locations (Oth). Binary factors were compared using the Fisher exact test or Mann-Whitney U-test. Continuous variables were compared using a two-tailed non-paired student t-test. The difference in distribution among IA-locations were assessed by Pearson's residuals. 6606 SPO-patients were compared to 841 ADPKD-patients, and 7709 SPO-IA were compared to 1089 ADPKD-IA. 78.9 % of APDK-patients suffered from hypertension and 46.6 % of SPO-patient ( p < 0.001). ADPKD-patients had more multiple IA than SPO patients ( p < 0.001). APKD-IA are diagnosed with smaller diameters than SPO-patients (mean 4.7 mm ± 1.6 ; mean 6.3 mm ± 0.9) without reaching the significant level. ADPDK-IAs were found more along the ICA and the Acom (Pearson's residual > 2). Pcom, Peri and Pcir IAs were more frequent in SPO than in ADPKD-cases (Pearson's residual > 3). No difference was found regarding the frequencies the MCA location. More PCir and Oth IA were observed in the SPO-group. In contrario to SPO-IA, ADPKD-IAs differ from non-PKD-IA in that they are more commonly located in the anterior circulation and in large-caliber arteries. The ADPKD-population more often presents with multiple IAs compared to the SPO-individuals. Because of these particularities, these IA should not be considered as “standard” IA and should receive a specific treatment plan