Diagnosis and risk factors for intracranial aneurysms in autosomal polycystic kidney disease: a cross-sectional study from the Genkyst cohort
Siriane Lefèvre, Marie‐Pierre Audrézet, Jean‐Michel Halimi, Hélène Longuet, Frank Bridoux, Laure Écotière, Jean‐François Augusto, Agnès Duveau, E. Renaudineau, Cécile Vigneau, T. Frouget, Christophe Charasse, Lorraine Gueguen, Régine Perrichot, Grégoire Couvrat, Guillaume Séret, Yannick Le Meur, Émilie Cornec-Le Gall, Genkyst Study Group, Drs A Grall-Jezequel, Marie‐Christine Moal, Catherine Hanrotel‐Saliou, I. Ségalen, T Tanquerel, Luisa Lanfranco, Vinh Toan Huynh, Arthur Capdeville, Mathilde Morin, P. Le Pogamp, Gie S, J Rivalan, Éric Laruelle, C Richer, Nolwenn Lorcy, Léonard Golbin, M. Terrasse, Sarah Morice, Henri Brenier, A. Michel, A Lavergne, Elisabeth Tomkiewicz, Philippe Gatault, Élodie Merieau, Christelle Barbet, Matthias Büchler, George Ionut Golea, Laurent Ghouti, D Gautard, Bénédicte Sautenet, M François, Albert Fournier, C Baron, Charleen Salmon, Nolwenn Rabot, Laura Iogna Prat, Jean Francois Valentin, Béatrice Birmelé, Christian Genest, Annabelle Goumard, Éstelle Desport, Antoine Thierry, G Touchard, Mohamed Belmouaz, Vincent Javaugue, Marc Bauwens, F Fride-Leroy, I. Bouteau, Jean‐François Subra, Virginie Besson, Maud Cousin, Johnny Sayegh, C Onno, M N Maghakian, Julien Demiselle, Anne Sophie Garnier, M. Planchais, Fanny Guibert, C. Stanescu, P. Le Cacheux, S Baluta, F. Leonetti, R. Boulahrouz, Marie-Laure Ferrier, C. Fréguin, A Simon, J. Potier, Jean-Marie Coulibaly, A Colombo, Thibault Dolley‐Hitze, E. Michez, Lise Mandart, V. Menoyo, Émilie Pinçon, Maria Cezara Mureșan, Pierre–Yves Durand, Inge Wegner, Iona Metes, Tiphaine Guyon-Roger, Bassem Wehbe, P. Siohan
Abstract
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is associated with an increased risk for developing intracranial aneurysms (IAs). We aimed to evaluate the frequency of diagnosis of IAs in the cross-sectional, population-based, Genkyst cohort, to describe ADPKD-associated IAs and to analyse the risk factors associated with the occurrence of IAs in ADPKD patients. METHODS: A cross-sectional study was performed in 26 nephrology centres from the western part of France. All patients underwent genetic testing for PKD1/PKD2 and other cystogenes. RESULTS: Among the 2449 Genkyst participants, 114 (4.65%) had a previous diagnosis of ruptured or unruptured IAs at inclusion, and ∼47% of them had a positive familial history for IAs. Most aneurysms were small and saccular and located in the anterior circulation; 26.3% of the patients had multiple IAs. The cumulative probabilities of a previous diagnosis of IAs were 3.9%, 6.2% and 8.1% at 50, 60 and 70 years, respectively. While this risk appeared to be similar in male and female individuals <50 years, after that age, the risk continued to increase more markedly in female patients, reaching 10.8% versus 5.4% at 70 years. The diagnosis rate of IAs was >2-fold higher in PKD1 compared with PKD2, with no influence of PKD1 mutation type or location. In multivariate analysis, female sex, hypertension <35 years, smoking and PKD1 genotype were associated with an increased risk for diagnosis of IAs. CONCLUSIONS: This study presents epidemiological data reflecting real-life clinical practice. The increased risk for IAs in postmenopausal women suggests a possible protective role of oestrogen.