Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease

Autores
Neumann, Hartmut P. H.; Malinoc, Angelica; Bacher, Janina; Nabulsi, Zinaida; Ivanovas, Vera; Ortiz Bruechle, Nadine; Mader, Irina; Hoffmann, Michael M.; Riegler, Peter; Kraemer Guth, Annette; Burchard, Christian; Schaeffner, Elke; Martin, Rodolfo Santiago; Azurmendi, Pablo Javier; Zerres, Klaus; Jilg, Cordula; Eng, Charis; Gläsker, Sven
Año de publicación
2012
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Background Patients who harbor intracranial aneurysms (IAs) run a risk for aneurysm rupture and subsequent subarachnoid hemorrhage which frequently results in permanent deficits or death. Prophylactic treatment of unruptured aneurysms is possible and recommended depending on the size and location of the aneurysm as well as patient age and condition. IAs are major manifestations of autosomal dominant polycystic kidney disease (ADPKD). Current guidelines do not suggest surveillance of IAs in ADPKD except in the setting of family history if IA was known in any relative with ADPKD. Management of IAs in ADPKD is problematic because limited data exist from large studies. Methods We established the Else Kröner-Fresenius Registry for ADPKD in Germany. Clinical data were assessed for age at diagnosis of IAs, stage of renal insufficiency, and number, location and size of IAs as well as family history of cerebral events. Patients with symptomatic or asymptomatic IAs were included. All patients with ADPKD-related IAs were offered mutation scanning of the susceptibility genes for ADPKD, the PKD1 and PKD2 genes. Results Of 463 eligible ADPKD patients from the population base of Germany, 32 (7%) were found to have IAs, diagnosed at the age of 2?71 years, 19 females and 13 males. Twenty (63%) of these 32 patients were symptomatic, whereas IAs were detected in an asymptomatic stage in 12 patients. IAs were multifocal in 12 and unifocal in 20 patients. In 26 patients (81%), IAs were diagnosed before end-stage renal failure. Twenty-five out of 27 unrelated index cases (93%) had no IAs or cerebral events documented in their relatives with ADPKD. In 16 unrelated index patients and 3 relatives, we detected germline mutations. The mutations were randomly distributed across the PKD1 gene in 14 and the PKD2 gene in 2 index cases. Questionnaires answered for 320/441 ADPKD patients without IAs revealed that only 45/320 (14%) had MR angiography. Conclusion In ADPKD, rupture of IAs occurs frequently before the start of dialysis, is only infrequently associated with a family history of IAs or subarachnoid hemorrhage, and is associated with mutations either of the PKD1 or the PKD2 gene of any type. Screening for IAs is widely insufficiently performed, should not be restricted to families with a history of cerebral events and should be started before end-stage renal failure.
Fil: Neumann, Hartmut P. H.. No especifíca;
Fil: Malinoc, Angelica. No especifíca;
Fil: Bacher, Janina. No especifíca;
Fil: Nabulsi, Zinaida. No especifíca;
Fil: Ivanovas, Vera. No especifíca;
Fil: Ortiz Bruechle, Nadine. No especifíca;
Fil: Mader, Irina. No especifíca;
Fil: Hoffmann, Michael M.. No especifíca;
Fil: Riegler, Peter. No especifíca;
Fil: Kraemer Guth, Annette. No especifíca;
Fil: Burchard, Christian. No especifíca;
Fil: Schaeffner, Elke. No especifíca;
Fil: Martin, Rodolfo Santiago. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Azurmendi, Pablo Javier. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Zerres, Klaus. No especifíca;
Fil: Jilg, Cordula. No especifíca;
Fil: Eng, Charis. No especifíca;
Fil: Gläsker, Sven. No especifíca;
Materia
INTRACRANIAL ANEURYSMS
AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE PREVENTIVE MEDICINE
PREVENTIVE MEDICINE
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/194461

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oai_identifier_str oai:ri.conicet.gov.ar:11336/194461
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney diseaseNeumann, Hartmut P. H.Malinoc, AngelicaBacher, JaninaNabulsi, ZinaidaIvanovas, VeraOrtiz Bruechle, NadineMader, IrinaHoffmann, Michael M.Riegler, PeterKraemer Guth, AnnetteBurchard, ChristianSchaeffner, ElkeMartin, Rodolfo SantiagoAzurmendi, Pablo JavierZerres, KlausJilg, CordulaEng, CharisGläsker, SvenINTRACRANIAL ANEURYSMSAUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE PREVENTIVE MEDICINEPREVENTIVE MEDICINEhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Background Patients who harbor intracranial aneurysms (IAs) run a risk for aneurysm rupture and subsequent subarachnoid hemorrhage which frequently results in permanent deficits or death. Prophylactic treatment of unruptured aneurysms is possible and recommended depending on the size and location of the aneurysm as well as patient age and condition. IAs are major manifestations of autosomal dominant polycystic kidney disease (ADPKD). Current guidelines do not suggest surveillance of IAs in ADPKD except in the setting of family history if IA was known in any relative with ADPKD. Management of IAs in ADPKD is problematic because limited data exist from large studies. Methods We established the Else Kröner-Fresenius Registry for ADPKD in Germany. Clinical data were assessed for age at diagnosis of IAs, stage of renal insufficiency, and number, location and size of IAs as well as family history of cerebral events. Patients with symptomatic or asymptomatic IAs were included. All patients with ADPKD-related IAs were offered mutation scanning of the susceptibility genes for ADPKD, the PKD1 and PKD2 genes. Results Of 463 eligible ADPKD patients from the population base of Germany, 32 (7%) were found to have IAs, diagnosed at the age of 2?71 years, 19 females and 13 males. Twenty (63%) of these 32 patients were symptomatic, whereas IAs were detected in an asymptomatic stage in 12 patients. IAs were multifocal in 12 and unifocal in 20 patients. In 26 patients (81%), IAs were diagnosed before end-stage renal failure. Twenty-five out of 27 unrelated index cases (93%) had no IAs or cerebral events documented in their relatives with ADPKD. In 16 unrelated index patients and 3 relatives, we detected germline mutations. The mutations were randomly distributed across the PKD1 gene in 14 and the PKD2 gene in 2 index cases. Questionnaires answered for 320/441 ADPKD patients without IAs revealed that only 45/320 (14%) had MR angiography. Conclusion In ADPKD, rupture of IAs occurs frequently before the start of dialysis, is only infrequently associated with a family history of IAs or subarachnoid hemorrhage, and is associated with mutations either of the PKD1 or the PKD2 gene of any type. Screening for IAs is widely insufficiently performed, should not be restricted to families with a history of cerebral events and should be started before end-stage renal failure.Fil: Neumann, Hartmut P. H.. No especifíca;Fil: Malinoc, Angelica. No especifíca;Fil: Bacher, Janina. No especifíca;Fil: Nabulsi, Zinaida. No especifíca;Fil: Ivanovas, Vera. No especifíca;Fil: Ortiz Bruechle, Nadine. No especifíca;Fil: Mader, Irina. No especifíca;Fil: Hoffmann, Michael M.. No especifíca;Fil: Riegler, Peter. No especifíca;Fil: Kraemer Guth, Annette. No especifíca;Fil: Burchard, Christian. No especifíca;Fil: Schaeffner, Elke. No especifíca;Fil: Martin, Rodolfo Santiago. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Azurmendi, Pablo Javier. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Zerres, Klaus. No especifíca;Fil: Jilg, Cordula. No especifíca;Fil: Eng, Charis. No especifíca;Fil: Gläsker, Sven. No especifíca;Karger2012-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/194461Neumann, Hartmut P. H.; Malinoc, Angelica; Bacher, Janina; Nabulsi, Zinaida; Ivanovas, Vera; et al.; Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease; Karger; Cerebrovascular Diseases (basel, Switzerland); 2; 1; 1-2012; 71-791015-9770CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1159/000342620info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:46:31Zoai:ri.conicet.gov.ar:11336/194461instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:46:31.536CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease
title Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease
spellingShingle Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease
Neumann, Hartmut P. H.
INTRACRANIAL ANEURYSMS
AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE PREVENTIVE MEDICINE
PREVENTIVE MEDICINE
title_short Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease
title_full Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease
title_fullStr Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease
title_full_unstemmed Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease
title_sort Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease
dc.creator.none.fl_str_mv Neumann, Hartmut P. H.
Malinoc, Angelica
Bacher, Janina
Nabulsi, Zinaida
Ivanovas, Vera
Ortiz Bruechle, Nadine
Mader, Irina
Hoffmann, Michael M.
Riegler, Peter
Kraemer Guth, Annette
Burchard, Christian
Schaeffner, Elke
Martin, Rodolfo Santiago
Azurmendi, Pablo Javier
Zerres, Klaus
Jilg, Cordula
Eng, Charis
Gläsker, Sven
author Neumann, Hartmut P. H.
author_facet Neumann, Hartmut P. H.
Malinoc, Angelica
Bacher, Janina
Nabulsi, Zinaida
Ivanovas, Vera
Ortiz Bruechle, Nadine
Mader, Irina
Hoffmann, Michael M.
Riegler, Peter
Kraemer Guth, Annette
Burchard, Christian
Schaeffner, Elke
Martin, Rodolfo Santiago
Azurmendi, Pablo Javier
Zerres, Klaus
Jilg, Cordula
Eng, Charis
Gläsker, Sven
author_role author
author2 Malinoc, Angelica
Bacher, Janina
Nabulsi, Zinaida
Ivanovas, Vera
Ortiz Bruechle, Nadine
Mader, Irina
Hoffmann, Michael M.
Riegler, Peter
Kraemer Guth, Annette
Burchard, Christian
Schaeffner, Elke
Martin, Rodolfo Santiago
Azurmendi, Pablo Javier
Zerres, Klaus
Jilg, Cordula
Eng, Charis
Gläsker, Sven
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv INTRACRANIAL ANEURYSMS
AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE PREVENTIVE MEDICINE
PREVENTIVE MEDICINE
topic INTRACRANIAL ANEURYSMS
AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE PREVENTIVE MEDICINE
PREVENTIVE MEDICINE
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Background Patients who harbor intracranial aneurysms (IAs) run a risk for aneurysm rupture and subsequent subarachnoid hemorrhage which frequently results in permanent deficits or death. Prophylactic treatment of unruptured aneurysms is possible and recommended depending on the size and location of the aneurysm as well as patient age and condition. IAs are major manifestations of autosomal dominant polycystic kidney disease (ADPKD). Current guidelines do not suggest surveillance of IAs in ADPKD except in the setting of family history if IA was known in any relative with ADPKD. Management of IAs in ADPKD is problematic because limited data exist from large studies. Methods We established the Else Kröner-Fresenius Registry for ADPKD in Germany. Clinical data were assessed for age at diagnosis of IAs, stage of renal insufficiency, and number, location and size of IAs as well as family history of cerebral events. Patients with symptomatic or asymptomatic IAs were included. All patients with ADPKD-related IAs were offered mutation scanning of the susceptibility genes for ADPKD, the PKD1 and PKD2 genes. Results Of 463 eligible ADPKD patients from the population base of Germany, 32 (7%) were found to have IAs, diagnosed at the age of 2?71 years, 19 females and 13 males. Twenty (63%) of these 32 patients were symptomatic, whereas IAs were detected in an asymptomatic stage in 12 patients. IAs were multifocal in 12 and unifocal in 20 patients. In 26 patients (81%), IAs were diagnosed before end-stage renal failure. Twenty-five out of 27 unrelated index cases (93%) had no IAs or cerebral events documented in their relatives with ADPKD. In 16 unrelated index patients and 3 relatives, we detected germline mutations. The mutations were randomly distributed across the PKD1 gene in 14 and the PKD2 gene in 2 index cases. Questionnaires answered for 320/441 ADPKD patients without IAs revealed that only 45/320 (14%) had MR angiography. Conclusion In ADPKD, rupture of IAs occurs frequently before the start of dialysis, is only infrequently associated with a family history of IAs or subarachnoid hemorrhage, and is associated with mutations either of the PKD1 or the PKD2 gene of any type. Screening for IAs is widely insufficiently performed, should not be restricted to families with a history of cerebral events and should be started before end-stage renal failure.
Fil: Neumann, Hartmut P. H.. No especifíca;
Fil: Malinoc, Angelica. No especifíca;
Fil: Bacher, Janina. No especifíca;
Fil: Nabulsi, Zinaida. No especifíca;
Fil: Ivanovas, Vera. No especifíca;
Fil: Ortiz Bruechle, Nadine. No especifíca;
Fil: Mader, Irina. No especifíca;
Fil: Hoffmann, Michael M.. No especifíca;
Fil: Riegler, Peter. No especifíca;
Fil: Kraemer Guth, Annette. No especifíca;
Fil: Burchard, Christian. No especifíca;
Fil: Schaeffner, Elke. No especifíca;
Fil: Martin, Rodolfo Santiago. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Azurmendi, Pablo Javier. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Zerres, Klaus. No especifíca;
Fil: Jilg, Cordula. No especifíca;
Fil: Eng, Charis. No especifíca;
Fil: Gläsker, Sven. No especifíca;
description Background Patients who harbor intracranial aneurysms (IAs) run a risk for aneurysm rupture and subsequent subarachnoid hemorrhage which frequently results in permanent deficits or death. Prophylactic treatment of unruptured aneurysms is possible and recommended depending on the size and location of the aneurysm as well as patient age and condition. IAs are major manifestations of autosomal dominant polycystic kidney disease (ADPKD). Current guidelines do not suggest surveillance of IAs in ADPKD except in the setting of family history if IA was known in any relative with ADPKD. Management of IAs in ADPKD is problematic because limited data exist from large studies. Methods We established the Else Kröner-Fresenius Registry for ADPKD in Germany. Clinical data were assessed for age at diagnosis of IAs, stage of renal insufficiency, and number, location and size of IAs as well as family history of cerebral events. Patients with symptomatic or asymptomatic IAs were included. All patients with ADPKD-related IAs were offered mutation scanning of the susceptibility genes for ADPKD, the PKD1 and PKD2 genes. Results Of 463 eligible ADPKD patients from the population base of Germany, 32 (7%) were found to have IAs, diagnosed at the age of 2?71 years, 19 females and 13 males. Twenty (63%) of these 32 patients were symptomatic, whereas IAs were detected in an asymptomatic stage in 12 patients. IAs were multifocal in 12 and unifocal in 20 patients. In 26 patients (81%), IAs were diagnosed before end-stage renal failure. Twenty-five out of 27 unrelated index cases (93%) had no IAs or cerebral events documented in their relatives with ADPKD. In 16 unrelated index patients and 3 relatives, we detected germline mutations. The mutations were randomly distributed across the PKD1 gene in 14 and the PKD2 gene in 2 index cases. Questionnaires answered for 320/441 ADPKD patients without IAs revealed that only 45/320 (14%) had MR angiography. Conclusion In ADPKD, rupture of IAs occurs frequently before the start of dialysis, is only infrequently associated with a family history of IAs or subarachnoid hemorrhage, and is associated with mutations either of the PKD1 or the PKD2 gene of any type. Screening for IAs is widely insufficiently performed, should not be restricted to families with a history of cerebral events and should be started before end-stage renal failure.
publishDate 2012
dc.date.none.fl_str_mv 2012-01
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/194461
Neumann, Hartmut P. H.; Malinoc, Angelica; Bacher, Janina; Nabulsi, Zinaida; Ivanovas, Vera; et al.; Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease; Karger; Cerebrovascular Diseases (basel, Switzerland); 2; 1; 1-2012; 71-79
1015-9770
CONICET Digital
CONICET
url http://hdl.handle.net/11336/194461
identifier_str_mv Neumann, Hartmut P. H.; Malinoc, Angelica; Bacher, Janina; Nabulsi, Zinaida; Ivanovas, Vera; et al.; Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease; Karger; Cerebrovascular Diseases (basel, Switzerland); 2; 1; 1-2012; 71-79
1015-9770
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1159/000342620
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Karger
publisher.none.fl_str_mv Karger
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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