Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): report of a case with a six-year follow-up
Michele Ragno1, Luigi Trojano2, Luigi Pianese3, Maria Virginia Boni4, Serena Silvestri3, Vladimiro Mambelli5, Teresa Lorenzi6, Marina Scarpelli7 and Manrico Morroni6
1Division of Neurology, Mazzoni Hospital, Ascoli Piceno, Italy, 2Department of Psychology, Second University of Naples, Italy, 3Molecular Medicine Laboratory, Mazzoni Hospital, Ascoli Piceno, Italy, 4Division of Nephrology, Mazzoni Hospital, Ascoli Piceno, Italy, 5Division of Pathological Anatomy, Mazzoni Hospital, Ascoli Piceno, Italy, 6Department of Experimental and Clinical Medicine, Section of Anatomy, Università Politecnica delle Marche and Electron Microscopy Unit, School of Medicine, United Hospital, Ancona, Italy and 7Section of Pathological Anatomy, Università Politecnica delle Marche, School of Medicine, United Hospital, Ancona, Italy
Offprint requests to: Manrico Morroni, Department of Experimental and Clinical Medicine, Università Politecnica delle Marche and Electron Microscopy Unit, School of Medicine, United Hospital, Via Tronto 10/a, 60020 Torrette, Ancona, Italy. e-mail: m.morroni@univpm.it
Summary. 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. Histol Histopathol 27, 1307-1314 (2012)
Key words: CADASIL, Kidney, Skin, Light microscopy, Transmission electron microscopy
DOI: 10.14670/HH-27.1307