title: Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): report of a case with a six-year follow-up.
abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a disorder of the cerebral small blood vessels caused by a mutation in the NOTCH3 gene, which encodes a large transmembrane receptor NOTCH3. It is associated with systemic arteriopathy involving small arteries, besides the brain, in skin, spleen, liver, muscle, aorta and in the kidney. The key pathological finding is the accumulation of granular osmiophilic material (GOM) on degenerating vascular smooth muscle cells. In the kidney GOMs have been described only in a very limited number of CADASIL patients.  We describe a genetically confirmed CADASIL patient with mild renal dysfunction and GOMs in the interlobular and juxtaglomerular arteries and, for the first time, also within the glomerulus, whose nephrology conditions remained stable, whereas the neurological manifestations markedly worsened over a six-year follow-up period. The reasons for this discrepancy are probably related to differences in the structure and function of brain and kidney blood vessels.
authors.affiliation: Division of Neurology, Mazzoni Hospital, Ascoli Piceno, Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Ragno
authors.forename: Luigi
authors.initials: L
authors.lastname: Trojano
authors.forename: Luigi
authors.initials: L
authors.lastname: Pianese
authors.forename: Maria Virginia
authors.initials: MV
authors.lastname: Boni
authors.forename: Serena
authors.initials: S
authors.lastname: Silvestri
authors.forename: Vladimiro
authors.initials: V
authors.lastname: Mambelli
authors.forename: Teresa
authors.initials: T
authors.lastname: Lorenzi
authors.forename: Marina
authors.initials: M
authors.lastname: Scarpelli
authors.forename: Manrico
authors.initials: M
authors.lastname: Morroni
mesh_terms: D046589:CADASIL / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D007668:Kidney / Q000473:pathology*; D008297:Male; D046529:Microscopy, Electron, Transmission; D008875:Middle Aged; D009131:Muscle, Smooth, Vascular / Q000473:pathology; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics; D012867:Skin / Q000473:pathology; D013997:Time Factors
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch