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首页> 外文期刊>American Journal of Kidney Diseases: The official journal of the National Kidney Foundation >Nephroangiosclerosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: is NOTCH3 mutation the common culprit?
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Nephroangiosclerosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: is NOTCH3 mutation the common culprit?

机译：伴有皮层下梗塞和白质脑病的常染色体显性遗传性主动脉病变的肾血管硬化：NOTCH3突变是常见的罪魁祸首吗？

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摘要

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.
机译：大脑皮层下梗死和白质脑病（CADASIL）的常染色体显性遗传性动脉病是一种系统性动脉疾病，其特征在于与NOTCH3突变相关的血管平滑肌细胞结构和功能受损。病理学发现包括各种组织中在动脉壁内具有非特异性的透明质酸化的病原性颗粒状亲脂性物质（GOM）沉积。尽管缺乏心血管危险因素，但主要临床表现是年轻人反复中风，导致早期痴呆。尽管已经从CADASIL患者的肾脏中发现了动脉硬化和GOM，但是迄今为止，与免疫球蛋白A肾病相关的肾脏疾病仅被描述过一次。我们报告了一名61岁的患者，该患者具有CADASIL的病史和近期的轻度高血压。他的母亲还表现出神经精神症状和不明原因的终末期肾脏疾病。该患者患有慢性肾脏疾病，该疾病通过估计肾小球滤过率（使用肾脏疾病研究中饮食的4变量修正方程式定义）为58 mL / min / 1.73 m（2）伴有轻度蛋白尿和间歇性镜下血尿。肾脏组织学分析显示严重的动脉硬化和轻度的间质纤维化。肾小球未显示肾小球系膜免疫球蛋白A沉积或局部节段增生。电子显微镜分析显示，小叶间和近肾小动脉的血管平滑肌细胞改变附近存在典型的GOM沉积。与最近的轻度高血压形成对比，肾血管硬化样病变异常严重。 GOM的存在强烈提示肾脏病变与NOTCH3突变有关。在这里，我们描述了CADASIL患者在没有共存肾病的情况下发生肾脏功能家族性肾脏疾病的首例病例。我们讨论了NOTCH3突变通过肾微循环或原发性Notch3相关血管疾病的功能受损在肾动脉硬化的发病机理中的作用。

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