PDF(Pubmed)
Abstract：
Systemic vascular involvement in children with cerebral arteriopathies is increasingly recognized and often highly morbid. Fibromuscular dysplasia (FMD) represents a cerebral arteriopathy with systemic involvement, commonly affecting the renal and carotid arteries. In adults, FMD diagnosis and classification typically relies on angiographic features, like the \'string-of-beads\' appearance, following exclusion of other diseases. Pediatric FMD (pFMD) is considered equivalent to adult FMD although robust evidence for similarities is lacking. We conducted a comprehensive literature review on pFMD and revealed inherent differences between pediatric and adult-onset FMD across various domains including epidemiology, natural history, histopathophysiology, clinical, and radiological features. Although focal arterial lesions are often described in children with FMD, the radiological appearance of \'string-of-beads\' is highly nonspecific in children. Furthermore, children predominantly exhibit intimal-type fibroplasia, common in other childhood monogenic arteriopathies. Our findings lend support to the notion that pFMD broadly reflects an undefined heterogenous group of monogenic systemic medium-or-large vessel steno-occlusive arteriopathies rather than a single entity. Recognizing the challenges in categorizing complex morphologies of cerebral arteriopathy using current classifications, we propose a novel term for describing children with cerebral and systemic vascular involvement: \'cerebral and systemic arteriopathy of childhood\' (CSA-c). This term aims to streamline patient categorization and, when coupled with advanced vascular imaging and high-throughput genomics, will enhance our comprehension of etiology, and accelerate mechanism-targeted therapeutic developments. Lastly, in light of the high morbidity in children with cerebral and systemic arteriopathies, we suggest that investigating for systemic vascular involvement is important in children with cerebral arteriopathies.
摘要：
越来越认识到患有脑动脉病变的儿童的全身性血管受累，并且通常是高度病态的。纤维肌性发育不良（FMD）代表全身受累的脑动脉病，通常影响肾动脉和颈动脉。在成年人中,口蹄疫的诊断和分类通常依赖于血管造影特征，像\'串珠\'外观，排除其他疾病。儿科口蹄疫（pFMD）被认为等同于成人口蹄疫，尽管缺乏有关相似性的有力证据。我们对pFMD进行了全面的文献综述，揭示了儿童和成人发病的FMD在包括流行病学在内的各个领域的内在差异。自然史,组织病理生理学,临床,和放射学特征。尽管FMD患儿常出现局灶性动脉病变,“珠子串”的放射学外观在儿童中是高度非特异性的。此外，儿童主要表现为内膜型纤维化，常见于其他儿童单基因动脉病。我们的发现支持了这样一种观点，即pFMD广泛反映了单基因系统性中大血管狭窄闭塞性动脉病变的未定义异质性组，而不是单个实体。认识到使用当前分类对脑动脉病的复杂形态进行分类的挑战，我们提出了一个描述脑和全身血管受累儿童的新术语：“儿童脑和全身动脉病”（CSA-c）。该术语旨在简化患者分类，再加上先进的血管成像和高通量基因组学，将增强我们对病因的理解，并加速机制靶向治疗的发展。最后,鉴于脑和系统性动脉病变儿童的高发病率，我们建议对患有脑动脉病变的儿童进行系统性血管受累的调查很重要。
