Division of Neurology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Am J Med Genet A. 2013 May;161A(5):1154-7. doi: 10.1002/ajmg.a.35829. Epub 2013 Apr 5.
Hypertension is one of the major complications in neurofibromatosis type 1 (NF1). It is known to be caused by renal artery stenosis or pheochromocytoma. However, more than half of hypertensive patients with NF1 do not have either disorder. We report here on a 13-year-old male with NF1 who had hypertension and a stenosis of the right renal artery associated with elevated renal vein renin on the diseased side. He underwent percutaneous transluminal renal angioplasty. In spite of successful dilation of the artery and normalized renin level, high blood pressure persisted beyond 6 months requiring antihypertensive medication. His wide pulse pressure suggested arterial stiffness due to NF1 vasculopathy. We posit that the cause of hypertension in this patient was considered to be arterial stiffness ascribed to NF1 vasculopathy rather than renal artery stenosis. Increased pulse pressure supports the hypothesis. This marker of arterial stiffness can be assessed non-invasively and should be evaluated routinely in NF1.
高血压是神经纤维瘤病 1 型（NF1）的主要并发症之一。已知其由肾动脉狭窄或嗜铬细胞瘤引起。然而，超过一半的 NF1 高血压患者没有这两种疾病。我们在此报告一例 NF1 合并高血压和右侧肾动脉狭窄的 13 岁男性患者，其病变侧肾静脉肾素升高。他接受了经皮腔内肾血管成形术。尽管动脉扩张成功且肾素水平正常化，但高血压持续超过 6 个月，需要使用降压药物。他的宽脉压提示 NF1 血管病变引起的动脉僵硬。我们推测，该患者高血压的原因被认为是 NF1 血管病变引起的动脉僵硬，而不是肾动脉狭窄。脉压增加支持这一假说。这种动脉僵硬的标志物可以进行非侵入性评估，应在 NF1 中常规评估。
