Pardo R, Somalo L, Málaga S, Santos F
Sección de Nefrología Pediátrica, Departamento de Pediatría, Hospital Universitario Central de Asturias.
Nefrologia. 2008;28(2):216-7.
Hypertension affect about 1% of patients with neurofibromatosis type 1 (NF1). Major causes are concomitant pheocromocytoma in adults and renovascular hypertension in children. In most cases, NF1 is associated with renal artery stenosis, smooth cell proliferation and advential fibrosis. We describe a 16 year old girl with hypertension complicating NF1 secondary to severe coarctation of abdominal aorta and tight stenosis of right renal artery, a very uncommon case. She was first diagnosed when she was 3-years-old and managed with antihypertensive drugs (atenolol, hidralazine and nifedipine); she experienced progressive uncontrollable hypertension but no symptoms, thus she was admitted to repeat studies. Laboratory evaluation (including creatinine, serum electrolytes, urinalysis, urine catecholamines and creatinine clearance) was normal Percutaneous transfemoral magnetic resonance angiography disclosed severe coarctation of abdominal aorta, functional occlusion of superior mesenteric artery and tight stenosis of right renal artery with poststenotic dilatation. Patient underwent surgery with aorto-aortic by-pass and right kidney artery reimplantation. Periodical controls confirmed no hypertension, even four years after surgery and normal flow patterns in Doppler ultrasonography. Patients with NF1 must be screened for pheochromoctyoma and renovascular hypertension. If hypertension appears, careful management is mandatory, as periodical follow-up even after surgery, since the long-term recurrence rate of renovascular lesions is not well established.
高血压影响约1%的1型神经纤维瘤病(NF1)患者。主要病因在成人中是并发嗜铬细胞瘤,在儿童中是肾血管性高血压。在大多数情况下,NF1与肾动脉狭窄、平滑肌增殖和外膜纤维化有关。我们描述了一名16岁女孩,其高血压使NF1病情复杂化,继发于腹主动脉严重缩窄和右肾动脉严重狭窄,这是一个非常罕见的病例。她3岁时首次被诊断出来,并接受抗高血压药物(阿替洛尔、肼屈嗪和硝苯地平)治疗;她经历了进行性难以控制的高血压,但没有症状,因此入院进行进一步检查。实验室检查(包括肌酐、血清电解质、尿液分析、尿儿茶酚胺和肌酐清除率)均正常。经皮股动脉磁共振血管造影显示腹主动脉严重缩窄、肠系膜上动脉功能性闭塞以及右肾动脉严重狭窄并伴有狭窄后扩张。患者接受了主动脉-主动脉搭桥和右肾动脉再植手术。定期检查证实术后四年血压正常,多普勒超声检查血流模式正常。NF1患者必须筛查嗜铬细胞瘤和肾血管性高血压。如果出现高血压,必须进行仔细管理,术后也要进行定期随访,因为肾血管病变的长期复发率尚未明确。