Ⅰ型神经纤维瘤病是一种常见的常染色体显性遗传病,主要由NF1基因突变导致。临床表现包括皮肤色斑和良性神经纤维瘤,病变可累及神经、骨骼、血管等多种组织结构。血管病变是NF1的常见并发症,患病率和死亡率较高。本文针对NF1中血管性病变的研究进展进行综述。

Neurofibromatosis type 1 is a common autosomal dominant condition caused by heterozygous mutations of the NF1 gene. The most frequent clinical manifestations are alterations of skin pigmentation and benign neurofibromas, but patients with NF1 may also develop nervous system tumors, skeletal abnormalities, or vascular disease. Vascular abnormalities is a common complication of NF1 and may lead to a high morbidity and mortality. The new findings of vascular abnormalities NF1were reviewed in this paper.