[Screening for cerebral aneurysms in the ADPKD population: mandatory or potentially harmful?]

G Ital Nefrol. 2011 Nov-Dec;28(6):582-7.
[Article in Italian]

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.

Publication types

  • English Abstract

MeSH terms

  • Biomarkers / metabolism
  • Calcium Channels / genetics
  • Humans
  • Intracranial Aneurysm / diagnosis*
  • Intracranial Aneurysm / epidemiology
  • Intracranial Aneurysm / etiology
  • Intracranial Aneurysm / genetics
  • Intracranial Aneurysm / radiotherapy
  • Intracranial Aneurysm / surgery
  • Italy / epidemiology
  • Magnetic Resonance Angiography*
  • Mass Screening
  • Mutation
  • Polycystic Kidney, Autosomal Dominant / complications*
  • Polycystic Kidney, Autosomal Dominant / genetics
  • Prevalence
  • Receptors, Cell Surface / genetics
  • Risk Assessment
  • Risk Factors
  • TRPP Cation Channels / genetics

Substances

  • Biomarkers
  • Calcium Channels
  • PKD2L1 protein, human
  • Receptors, Cell Surface
  • TRPP Cation Channels
  • polycystic kidney disease 1 protein