Division of Neurology, Mazzoni Hospital, Ascoli Piceno, Italy.
Histol Histopathol. 2012 Oct;27(10):1307-14. doi: 10.14670/HH-27.1307.
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.
伴有皮质下梗死和白质脑病的常染色体显性脑动脉病（CADASIL）是一种由 NOTCH3 基因突变引起的大脑小血管疾病，该基因编码一种大型跨膜受体 NOTCH3。它与除大脑以外的皮肤、脾脏、肝脏、肌肉、主动脉和肾脏中的小动脉的系统性动脉病有关。关键的病理发现是变性血管平滑肌细胞上颗粒状嗜锇物质（GOM）的积累。在肾脏中，仅在极少数 CADASIL 患者中描述了 GOM。我们描述了一位遗传性 CADASIL 患者，该患者肾功能轻度异常，在小叶间动脉和肾小球旁动脉中存在 GOM，并且这是首次在肾小球中也发现了 GOM，其肾脏病状况保持稳定，而神经表现在六年的随访期间明显恶化。这种差异的原因可能与大脑和肾脏血管的结构和功能的差异有关。
