Diagnosis and risk factors for intracranial aneurysms in autosomal polycystic kidney disease: a cross-sectional study from the Genkyst cohort
Author:
Lefèvre Siriane12, Audrézet Marie-Pierre23, Halimi Jean-Michel45, Longuet Hélène4, Bridoux Frank6, Ecotière Laure6, Augusto Jean-François7ORCID, Duveau Agnès7, Renaudineau Eric8, Vigneau Cécile9, Frouget Thierry10, Charasse Christophe11, Gueguen Lorraine12, Perrichot Régine13, Couvrat Grégoire14, Seret Guillaume15ORCID, Le Meur Yannick116, Cornec-Le Gall Emilie12, Grall-Jezequel Drs A, Moal M C, Hanrotel-Saliou C, Segalen I, Tanquerel T, Lanfranco L, Huynh V T, Capdeville A, Morin M P, Le Pogamp P, Gie S, Rivalan J, Laruelle E, Richer C, Lorcy N, Golbin L, Terrasse M, Morice S, Brenier H, Michel A, Lavergne A, Tomkiewicz E, Gatault P, Merieau E, Barbet C, Buchler M, Golea G, Ghouti L, Gautard D, Sautenet B, François M, Fournier A, Baron C, Salmon C, Rabot N, Prat L, Valentin J F, Birmele B, Genest C, Goumard A, Desport E, Thierry A, Touchard G, Belmouaz M, Javaugue V, Bauwens M A, Fride-Leroy F, Bouteau I, Subra J F, Besson V, Cousin M, Sayegh J, Onno C, Maghakian M N, Demiselle J, Garnier A S, Planchais M, Guibert F, Stanescu C, Le Cacheux P, Baluta S, Leonetti F, Boulahrouz R, Ferrier M L, Freguin C, Simon A, Potier J, Coulibaly J M, Colombo A, Dolley-Hitze T, Michez E, Mandart L, Menoyo V, Pincon E, Muresan C, Durand P Y, Wegner I, Metes I, Guyon-Roger T, Wehbe B, Siohan P, Drouet C, Le Guillou A, Le Jeune M, Beillard G, Corlu L, Sawadogo T, Georgescu S, Jousset P, Latif R, Massad M, Jaulin J P, Couvrat-Desvergnes G, Querard A H, Ottavioli J N, Target N, Chapal A, Le Fur A, Besnier D, Coz S Regnier-Le, Blanpain A, Durault S, Larmet D, Skandri A, Pouteau L M, Labatut D, Bachelet-Rousseau C, Delbes S, Pourreau F, Mzoughi S, Guillodo M P, Depraetre P, Strullu B, Chaffara E, Le Mee M, Terki N, Goulesque K, Benarbia S, Dimulescu M, Rifaat M, Legrand D, Duneau G, Georges E, Babinet F, Lanoiselee S, Savoiu C, Testa A, Oancea I, Coupel I, Parahy S, Lefrancois G, Hristea D, Briand E, Bugnon D, Martin S,
Affiliation:
1. Service de Néphrologie, Hémodialyse et Transplantation rénale, CHRU Brest , Brest, France 2. Univ Brest, Inserm , UMR 1078, GGB, Brest, France 3. Service de Génétique Moléculaire, CHRU Brest , Brest, France 4. Service de Néphrologie-HTA, Dialyses, Transplantation rénale, Centre Hospitalier Universitaire de Tours , Tours, France 5. Université de Tours , Tours, France 6. Service de Néphrologie, Hémodialyse et Transplantation rénale, Centre Hospitalier Universitaire de Poitiers , Poitiers, France 7. Service de Néphrologie, Hémodialyse et Transplantation rénale, Centre Hospitalier Universitaire de Angers , Angers, France 8. Service de Néphrologie, Centre Hospitalier Broussais , Saint-Malo, France 9. Univ Rennes, CHU Rennes, Inserm, EHESP, Irset (Institut de recherche en santé , environnement et travail)–UMR_S 1085, Rennes, France 10. CHU Pontchaillou, Service de Néphrologie , Rennes Cedex, France 11. Service de Néphrologie, Centre Hospitalier Yves Le Foll , Saint Brieuc, France 12. Service de Néphrologie, Centre Hospitalier de Cornouaille , Quimper, France 13. Service de Néphrologie, Centre Hospitalier de Bretagne Atlantique , Vannes, France 14. Service de Néphrologie, Centre Hospitalier Départemental Vendée , La Roche sur Yon, France 15. Nephrologie-Dialyse, Association ECHO , Le Mans, France 16. Univ Brest, UMR 1227, LBAI, Labex IGO , Brest, France
Abstract
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.
Funder
National Plan for Clinical Research French Association for Information and Research on Genetic Kidney Diseases Otsuka Pharmaceuticals Industry National Research Agency
Publisher
Oxford University Press (OUP)
Subject
Transplantation,Nephrology
Cited by
9 articles.
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