Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): Report of a case with a six-year follow-up

Michele Ragno, Luigi Trojano, Luigi Pianese, Maria Virginia Boni, Serena Silvestri, Vladimiro Mambelli, Teresa Lorenzi, Marina Scarpelli, Manrico Morroni

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1307-1314
Number of pages8
JournalHistology and Histopathology
Volume27
Issue number10
Publication statusPublished - Oct 2012

Keywords

  • CADASIL
  • Kidney
  • Light microscopy
  • Skin
  • Transmission electron microscopy

ASJC Scopus subject areas

  • Histology
  • Pathology and Forensic Medicine

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