gms | German Medical Science

63. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC)
Joint Meeting mit der Japanischen Gesellschaft für Neurochirurgie (JNS)

Deutsche Gesellschaft für Neurochirurgie (DGNC) e. V.

13. - 16. Juni 2012, Leipzig

Molecular genetic and clinical findings in patients with intracranial aneurysms and autosomal dominant polycystic kidney disease

Meeting Abstract

  • S. Gläsker - Department of Neurosurgery, Albert-Ludwigs-University, Freiburg, Germany
  • A. Malinoc - Department of Nephrology, Section of Preventive Medicine, Albert-Ludwigs-University, Freiburg, Germany
  • V. Ivanovas - Department of Neuroradiology, Albert-Ludwigs-University, Freiburg, Germany
  • I. Mader - Department of Neuroradiology, Albert-Ludwigs-University, Freiburg, Germany
  • M. M. Hoffmann - Department of Laboratory Medicine, Albert-Ludwigs-University, Freiburg, Germany
  • C. Jilg - Department of Urology, Albert-Ludwigs-University, Freiburg, Germany
  • P. Riegler - Center for Nephrology and Dialysis, Merano, Italy
  • A. K. Kraemer-Guth - Dialysis Training Center, Freiburg, Germany
  • C. Burchardi - Center for Nephrology and Dialysis, Offenbach, Germany
  • H. P. H. Neumann - Department of Nephrology, Section of Preventive Medicine, Albert-Ludwigs-University, Freiburg, Germany

Deutsche Gesellschaft für Neurochirurgie. Japanische Gesellschaft für Neurochirurgie. 63. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC), Joint Meeting mit der Japanischen Gesellschaft für Neurochirurgie (JNS). Leipzig, 13.-16.06.2012. Düsseldorf: German Medical Science GMS Publishing House; 2012. DocDO.01.10

DOI: 10.3205/12dgnc027, URN: urn:nbn:de:0183-12dgnc0277

Veröffentlicht: 4. Juni 2012

© 2012 Gläsker et al.
Dieser Artikel ist ein Open Access-Artikel und steht unter den Creative Commons Lizenzbedingungen (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.de). Er darf vervielfältigt, verbreitet und öffentlich zugänglich gemacht werden, vorausgesetzt dass Autor und Quelle genannt werden.


Gliederung

Text

Objective: Cerebral aneurysms are major components of autosomal-dominant-polycystic-kidney-disease (ADPKD). Patients who harbour both components run a risk for aneurysm rupture and subsequent subarachnoid hemorrhage which frequently results in death or permanent deficits. Knowledge of molecular genetic data and time of rupture is limited.

Methods: The Else-Kroener-Fresenius-Registry for ADPKD in Germany served as the basis for patients. Mutation screening of the PKD1 and PKD2 genes was performed for intragenic mutations and large deletions. Clinical data were assessed for number and location of the aneurysms and treatment as well as family history for cerebral events.

Results: In 14 unrelated index patients and 2 relatives, 9 females and 5 males, age 2–57 at diagnosis of the cerebral aneurysms we detected germline mutations. The mutations were found in the PKD1 gene in 12 and in the PKD2 gene in 2 index cases. Eight PKD1 mutations are novel. In PKD1 the mutations were spread over the entire gene. Manifestations of the cerebral aneurysms were multifocal in 4 and single in 12 patients. Symptomatic aneurysms were present in 11, whereas in 5 patients the aneurysms were detected in an asymptomatic stage. In 15 patients (94%) the cerebral aneurysms were diagnosed before end stage renal failure. Eleven out of 14 index cases had a family history without CNS manifestations.

Conclusions: Cerebral aneurysms occur in ADPKD associated with mutations of PKD1 and PKD2. Screening for aneurysms must not be restricted to families with a history for cerebral events and should be started before end stage renal failure.