1. [Screening for cerebral aneurysms in the ADPKD population: mandatory or potentially harmful?]
- Author
-
Riccardo Magistroni, Palmieri, L., and Scolari, F.
- Subjects
Biological Markers/metabolism Calcium Channels/genetics Humans Intracranial Aneurysm/*diagnosis/epidemiology/etiology/genetics/radiotherapy/surgery Italy/epidemiology *Magnetic Resonance Angiography Mass Screening Mutation Polycystic Kidney ,TRPP Cation Channels ,Intracranial Aneurysm ,Receptors, Cell Surface ,Autosomal Dominant/*complications/genetics Prevalence Receptors ,Cell Surface/genetics Risk Assessment Risk Factors TRPP Cation Channels/genetics ,Polycystic Kidney, Autosomal Dominant ,Risk Assessment ,Italy ,Risk Factors ,Mutation ,Prevalence ,Humans ,Mass Screening ,Calcium Channels ,Biomarkers ,Magnetic Resonance Angiography - Abstract
Cerebral aneurysm in autosomal dominant polycystic kidney disease (ADPKD) is an uncommon event (documented in 6-13% of cases) but frequently characterized by severe neurological sequelae and potentially fatal in case of rupture. The arterial vascular wall of the anterior cerebral circulation is most frequently involved. Experimental data showed the expression of polycystins (the proteins modified by the mutation in this disease) in the affected arterial vascular wall and some mutations apparently give rise to greater susceptibility to the complication. The risk factors that cause the predisposition to this condition and the natural history are poorly understood. This lack of information complicates the clinical management of these patients because many pivotal questions still need an answer: Are cerebral aneurysms to be screened for in the ADPKD population? If so, at which intervals? In which cases where an aneurysm has been detected is correction needed? Which type of correction technique is to be preferred, interventional neuroradiology or neurosurgery? The three authors compare their partially discordant positions on this highly controversial topic.
- Published
- 2011