Diagnosis and risk factors for intracranial aneurysms in autosomal polycystic kidney disease : a cross-sectional study from the Genkyst cohort
© The Author(s) 2022. Published by Oxford University Press on behalf of the ERA..
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.
Medienart: |
E-Artikel |
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Erscheinungsjahr: |
2022 |
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Erschienen: |
2022 |
Enthalten in: |
Zur Gesamtaufnahme - volume:37 |
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Enthalten in: |
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 37(2022), 11 vom: 19. Okt., Seite 2223-2233 |
Sprache: |
Englisch |
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Beteiligte Personen: |
Lefèvre, Siriane [VerfasserIn] |
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Links: |
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Themen: |
Autosomal dominant polycystic kidney disease (ADPKD) |
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Anmerkungen: |
Date Completed 24.10.2022 Date Revised 17.11.2022 published: Print ClinicalTrials.gov: NCT02112136 Citation Status MEDLINE |
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doi: |
10.1093/ndt/gfac027 |
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funding: |
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Förderinstitution / Projekttitel: |
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PPN (Katalog-ID): |
NLM336419384 |
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245 | 1 | 0 | |a Diagnosis and risk factors for intracranial aneurysms in autosomal polycystic kidney disease |b a cross-sectional study from the Genkyst cohort |
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500 | |a ClinicalTrials.gov: NCT02112136 | ||
500 | |a Citation Status MEDLINE | ||
520 | |a © The Author(s) 2022. Published by Oxford University Press on behalf of the ERA. | ||
520 | |a 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 | ||
520 | |a 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 | ||
520 | |a 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 | ||
520 | |a 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 | ||
650 | 4 | |a Journal Article | |
650 | 4 | |a Research Support, Non-U.S. Gov't | |
650 | 4 | |a autosomal dominant polycystic kidney disease (ADPKD) | |
650 | 4 | |a genetics | |
650 | 4 | |a intracranial aneurysms | |
650 | 4 | |a risk factors | |
650 | 4 | |a subarachnoid haemorrhage | |
650 | 7 | |a Estrogens |2 NLM | |
700 | 1 | |a Audrézet, Marie-Pierre |e verfasserin |4 aut | |
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700 | 1 | |a Longuet, Hélène |e verfasserin |4 aut | |
700 | 1 | |a Bridoux, Frank |e verfasserin |4 aut | |
700 | 1 | |a Ecotière, Laure |e verfasserin |4 aut | |
700 | 1 | |a Augusto, Jean-François |e verfasserin |4 aut | |
700 | 1 | |a Duveau, Agnès |e verfasserin |4 aut | |
700 | 1 | |a Renaudineau, Eric |e verfasserin |4 aut | |
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700 | 1 | |a Tanquerel, T |e investigator |4 oth | |
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