Nephroangiosclerosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: is NOTCH3 mutation the common culprit?

Am J Kidney Dis. 2008 Aug;52(2):340-5. doi: 10.1053/j.ajkd.2008.04.017. Epub 2008 Jun 24.

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a systemic arterial disease characterized by impairment of vascular smooth muscle cell structure and function related to NOTCH3 mutations. Pathological findings include pathognomonic granular osmiophilic material (GOM) deposition with nonspecific hyalinization within the artery wall in a variety of tissues. The main clinical presentation is iterative strokes in young adults despite the lack of cardiovascular risk factors, leading to early dementia. Although arteriosclerosis and GOM have been found in kidneys from patients with CADASIL, kidney disease has been described only once up to now, in association with immunoglobulin A nephropathy. We report the case of a 61-year-old patient with a medical history of CADASIL and recent mild hypertension. His mother also showed neuropsychiatric symptoms and end-stage renal disease of unknown cause. The patient had a chronic kidney disease defined by means of estimated glomerular filtration rate using the 4-variable Modification of Diet in Renal Disease Study equation of 58 mL/min/1.73 m(2) associated with mild proteinuria and intermittent microscopic hematuria. Renal histological analysis showed severe arteriosclerosis and mild interstitial fibrosis. Glomeruli did not show mesangial immunoglobulin A deposition or focal segmental proliferation. Electron microscopic analysis showed typical GOM deposition in the vicinity of altered vascular smooth muscle cells in interlobular and juxtaglomerular arteries. The nephroangiosclerosis-like lesions were unusually severe in contrast to the recent mild hypertension. The presence of GOM strongly suggests that renal lesions were related to the NOTCH3 mutation. Here, we describe the first case of familial occurrence of kidney disease with decreased kidney function in the absence of coexisting nephropathy in patients with CADASIL. We discuss the role of NOTCH3 mutation in the pathogenesis of nephroangiosclerosis through functional impairment of renal microcirculation or primary Notch3-related vascular disease.

Publication types

  • Case Reports

MeSH terms

  • Arteriolosclerosis / genetics*
  • Arteriolosclerosis / metabolism
  • Arteriolosclerosis / pathology
  • Biopsy
  • CADASIL / complications
  • CADASIL / diagnosis
  • CADASIL / genetics*
  • Cell Proliferation
  • DNA / genetics*
  • DNA Mutational Analysis
  • Follow-Up Studies
  • Glomerulonephritis, IGA / complications*
  • Glomerulonephritis, IGA / genetics
  • Glomerulonephritis, IGA / pathology
  • Humans
  • Immunohistochemistry
  • Juxtaglomerular Apparatus / blood supply*
  • Magnetic Resonance Imaging
  • Male
  • Mesangial Cells / ultrastructure
  • Microscopy, Electron
  • Middle Aged
  • Muscle, Smooth, Vascular / metabolism
  • Muscle, Smooth, Vascular / ultrastructure
  • Mutation, Missense*
  • Receptor, Notch3
  • Receptors, Notch / genetics*
  • Renal Artery / diagnostic imaging
  • Renal Artery / metabolism
  • Renal Artery / pathology
  • Renal Circulation
  • Ultrasonography, Doppler

Substances

  • NOTCH3 protein, human
  • Receptor, Notch3
  • Receptors, Notch
  • DNA