PDF(Pubmed)
Abstract：
Middle aortic syndrome (MAS) is a rare vascular disease representing an important cause of severe hypertension in children. MAS is characterized by segmental or diffuse narrowing of the abdominal and/or distal descending aorta with involvement of the renal and visceral branches. Most cases of MAS are idiopathic, but MAS may occur in genetic and acquired disorders. The most common genetic causes of MAS are neurofibromatosis type I, Williams syndrome, Alagille syndrome, tuberous sclerosis and mucopolysaccharidosis. This review article discusses the pathophysiological aspects, distinctive associated features, and management of genetic forms of MAS in children.
摘要：
中主动脉综合征（MAS）是一种罕见的血管疾病，是儿童严重高血压的重要原因。MAS的特征是腹部和/或远端降主动脉的节段性或弥漫性狭窄，涉及肾脏和内脏分支。大多数MAS病例是特发性的，但MAS可能发生在遗传性和获得性疾病中。MAS最常见的遗传原因是I型神经纤维瘤病，威廉姆斯综合症,Alagille综合征,结节性硬化症和粘多糖贮积症。这篇综述文章讨论了病理生理方面，独特的相关特征，以及儿童MAS遗传形式的管理。
