Key Laboratory of Endocrinology, Ministry of Health; Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.
Eur J Med Res. 2014 Mar 28;19(1):17. doi: 10.1186/2047-783X-19-17.
Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant disorder. The most common vascular abnormality in patients with NF1 is bilateral or unilateral renal artery stenosis.
A 16-year-old boy presented with a headache of 4-year duration and was found to be moderately hypertensive. On physical examination, axillary freckling and multiple café-au-lait spots were revealed over the trunk, while numerous small nodules were palpable on the limbs. Biopsy of subcutaneous nodule showed neurofibroma. Lisch nodules were identified on slit-lamp examination and grade I hypertensive retinopathy was present on fundoscopy. Clinical laboratory investigations revealed that renal and liver function tests, blood cells count, urinalysis, serum electrolytes, serum levels of renin and aldosterone, and 24-hour urine levels of catecholamines were all within normal ranges. Abdominal ultrasound and CT were normal. Both kidneys were of normal size. CT angiography showed right renal artery stenosis (>90%) at the ostium. The final diagnosis of NF1 with right renal artery stenosis and secondary hypertension was then made. The patient was treated with Procardin (30 mg/d) and improved with a significant decline in blood pressure. The main outcomes were to control blood pressure without necessarily proceeding with PTRA. We also present a review of the literature.
NF1 may present with hypertension due to renal artery stenosis in children. All young patients (<30 year) with hypertension should be clinically screened for secondary causes of hypertension, including NF1, so that renal revascularization can be offered before permanent end organ damage has occurred. First-line management using medication alone could be appropriate, keeping the interventional options for when the patient's condition deteriorates.
神经纤维瘤病 1 型（NF1）是一种相对常见的常染色体显性遗传病。NF1 患者最常见的血管异常是双侧或单侧肾动脉狭窄。
一名 16 岁男孩因头痛 4 年就诊，被发现为中度高血压。体格检查发现，患者的腋窝有雀斑，躯干上有多个咖啡牛奶斑，四肢有多个小结节可触及。皮下结节活检显示为神经纤维瘤。裂隙灯检查发现 Lisch 结节，眼底镜检查发现 I 级高血压性视网膜病变。临床实验室检查显示，肾功能和肝功能检查、血细胞计数、尿液分析、血清电解质、肾素和醛固酮血清水平以及 24 小时尿液儿茶酚胺水平均在正常范围内。腹部超声和 CT 均正常。双肾大小正常。CT 血管造影显示右肾动脉开口处狭窄（>90%）。最终诊断为 NF1 合并右肾动脉狭窄和继发性高血压。给予患者 Procardin（30mg/d）治疗后，血压显著下降，病情得到改善。主要结果是在不必进行 PTRA 的情况下控制血压。我们还对文献进行了回顾。
NF1 可在儿童中因肾动脉狭窄而出现高血压。所有年轻的高血压患者（<30 岁）都应进行继发性高血压的临床筛查，包括 NF1，以便在永久性终末器官损害发生之前提供肾血管重建。单独使用药物的一线治疗可能是合适的，保留介入治疗的选择，以防患者病情恶化。
