Li Haichong, Zhang Hanwen, Cao Jun, Guo Dong, Zhang Xuejun, Yao Ziming
Department of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No.56, Nanlishi Road, Beijing, 100045, China.
Children's Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Hospital of Beijing Children's Hospital, Urumqi, 830054, China.
BMC Pediatr. 2025 Jan 11;25(1):27. doi: 10.1186/s12887-024-05240-w.
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder affecting multiple systems. However, arterial stenosis is a rare manifestation in patients with NF1. Since the symptoms of arterial stenosis caused by NF1 are often atypical and have a high under-diagnosis rate, this can lead to serious complications such as hypertension, ischemic stroke, or even death. The aim of our research is to analyse the clinical characteristics of arterial stenosis in pediatric patients with NF1 and to summarise its diagnosis, treatment and prognosis.
We conducted a retrospective review of data from patients with NF1 treated at Beijing Children's Hospital from 2016 to 2020. Patients diagnosed with arterial stenosis, identified through clinical symptoms, physical examination, arterial ultrasonography, or imaging studies, were included in this study. These patients received symptomatic drug and/or surgical treatments and were followed up regularly. We summarized demographic characteristics, sites of arterial stenosis, clinical manifestations, and treatment outcomes.
Among the 258 patients with NF1 treated at our hospital, 12 (4.7%) had arterial stenosis, comprising 9 males and 3 females with a median age of 7 years (range: 1-14 years). Renal artery stenosis was diagnosed in 7 patients (58.3%), while internal carotid artery (ICA) stenosis was diagnosed in 5 patients (41.7%). The predominant symptoms of renal artery and ICA stenosis were renal hypertension and convulsions, respectively. Antihypertensive drugs were effective in 5 patients with renal hypertension; 2 patients required balloon dilatation of the renal artery due to inadequate response to medication. Oral antiepileptic treatment was effective in 3 patients with ICA stenosis, and encephaloduroarteriosynangiosis was effective in the remaining 2 cases. The follow-up period ranged from 2 to 6 years, with a median duration of 3 years. No deterioration or mortality was observed during the follow-up period.
Arterial stenosis was present in approximately 4.7% of patients with NF1, predominantly affecting the renal artery and ICA. Renal hypertension and convulsions were the primary symptoms of renal artery and ICA stenosis, respectively. Early diagnosis and intervention can substantially improve the prognosis of these patients.
1型神经纤维瘤病（NF1）是一种影响多个系统的常染色体显性遗传病。然而，动脉狭窄在NF1患者中是一种罕见的表现。由于NF1所致动脉狭窄的症状往往不典型且漏诊率高，这可能导致严重并发症，如高血压、缺血性中风甚至死亡。我们研究的目的是分析儿童NF1患者动脉狭窄的临床特征，并总结其诊断、治疗及预后情况。
我们对2016年至2020年在北京儿童医院接受治疗的NF1患者的数据进行了回顾性分析。通过临床症状、体格检查、动脉超声或影像学检查确诊为动脉狭窄的患者纳入本研究。这些患者接受了对症药物和/或手术治疗，并定期进行随访。我们总结了人口统计学特征、动脉狭窄部位、临床表现及治疗结果。
在我院接受治疗的258例NF1患者中，12例（4.7%）有动脉狭窄，其中男性9例，女性3例，中位年龄7岁（范围：1 - 14岁）。7例（58.3%）诊断为肾动脉狭窄，5例（41.7%）诊断为颈内动脉（ICA）狭窄。肾动脉和ICA狭窄的主要症状分别为肾性高血压和惊厥。5例肾性高血压患者使用降压药物有效；2例因药物治疗效果不佳需要进行肾动脉球囊扩张。3例ICA狭窄患者口服抗癫痫治疗有效，其余2例采用脑硬脑膜动脉血管融合术有效。随访时间为2至6年，中位时间为3年。随访期间未观察到病情恶化或死亡。
约4.7%的NF1患者存在动脉狭窄，主要影响肾动脉和ICA。肾性高血压和惊厥分别是肾动脉和ICA狭窄的主要症状。早期诊断和干预可显著改善这些患者的预后。
