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 language | English |
|---|---|
| Pages (from-to) | 1307-1314 |
| Number of pages | 8 |
| Journal | Histology and Histopathology |
| Volume | 27 |
| Issue number | 10 |
| Publication status | Published - Oct 2012 |
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Keywords
- CADASIL
- Kidney
- Light microscopy
- Skin
- Transmission electron microscopy
ASJC Scopus subject areas
- Histology
- Pathology and Forensic Medicine
Cite this
Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) : Report of a case with a six-year follow-up. / Ragno, Michele; Trojano, Luigi; Pianese, Luigi; Boni, Maria Virginia; Silvestri, Serena; Mambelli, Vladimiro; Lorenzi, Teresa; Scarpelli, Marina; Morroni, Manrico.
In: Histology and Histopathology, Vol. 27, No. 10, 10.2012, p. 1307-1314.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
T2 - Report of a case with a six-year follow-up
AU - Ragno, Michele
AU - Trojano, Luigi
AU - Pianese, Luigi
AU - Boni, Maria Virginia
AU - Silvestri, Serena
AU - Mambelli, Vladimiro
AU - Lorenzi, Teresa
AU - Scarpelli, Marina
AU - Morroni, Manrico
PY - 2012/10
Y1 - 2012/10
N2 - 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.
AB - 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.
KW - CADASIL
KW - Kidney
KW - Light microscopy
KW - Skin
KW - Transmission electron microscopy
UR - http://www.scopus.com/inward/record.url?scp=84867522659&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84867522659&partnerID=8YFLogxK
M3 - Article
C2 - 22936449
AN - SCOPUS:84867522659
VL - 27
SP - 1307
EP - 1314
JO - Histology and Histopathology
JF - Histology and Histopathology
SN - 0213-3911
IS - 10
ER -