title: Bilateral cysts in the choroid plexus in a patient with autosomal dominant polycystic kidney disease.
abstract: Autosomal dominant polycystic kidney disease (ADPKD) is a genetic systemic disorder, which is associated with cyst formation in several organs, renal function decline and a higher prevalence of intracranial aneurysms. We report a 52-year-old, otherwise healthy, man with ADPKD who had asymptomatic, bilateral, multiple cysts in the choroid plexus, which is an extremely rare abnormality. Recent evidence suggests that the polycystin proteins, which are dysfunctional in ADPKD, are found in ciliated choroid plexus cells that are involved with regulation of cerebrospinal fluid homeostasis. We hypothesize therefore that choroid plexus cysts may be part of the ADPKD phenotype, which has not been described before.
authors.affiliation: Department of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
authors.forename: Niek F
authors.initials: NF
authors.lastname: Casteleijn
authors.affiliation: Department of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
authors.forename: Edwin M
authors.initials: EM
authors.lastname: Spithoven
authors.affiliation: Department of Nephrology and Hypertension, University Medical Center Utrecht, University of Utrecht, Utrecht, the Netherlands.
authors.forename: Maarten B
authors.initials: MB
authors.lastname: Rookmaaker
authors.affiliation: Department of Neurology, University Medical Center Utrecht, University of Utrecht, Utrecht, the Netherlands.
authors.forename: Mervyn D I
authors.initials: MD
authors.lastname: Vergouwen
authors.affiliation: Department of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
authors.forename: Ron T
authors.initials: RT
authors.lastname: Gansevoort
mesh_terms: D001921:Brain / Q000473:pathology; D002831:Choroid Plexus / Q000473:pathology*; D003560:Cysts / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D016891:Polycystic Kidney, Autosomal Dominant / Q000150:complications*; D050396:TRPP Cation Channels / Q000378:metabolism
chemical_list: D050396:TRPP Cation Channels
keywords: PKD1; PKD2; autosomal dominant polycystic kidney disease; brain cysts; choroid plexus