Renovascular disease and hypertension in children with neurofibromatosis
E Fossali1, E Signorini, R C Intermite
1Il Clinica Pediatrica, Istituti Clinic di Perfezionamento, Università di Milano, Milan, Italy. elyandre@tin.it
Insights
Neurofibromatosis type 1 (NF1) is linked to vascular issues and hypertension in children. Early detection via 24-hour blood pressure monitoring is crucial for managing this common complication.
Area of Science:
- Pediatric Nephrology
- Vascular Medicine
- Genetics
Background:
- Neurofibromatosis type 1 (NF1) is associated with vascular abnormalities, including renal artery stenosis and secondary hypertension.
- The prevalence of these complications, especially in pediatric populations, remains largely undetermined.
Purpose of the Study:
- To assess the association between NF1, vascular abnormalities, and secondary hypertension in a pediatric cohort.
- To evaluate the effectiveness of diagnostic tools and treatment modalities for hypertension in NF1 patients.
Main Methods:
- Prospective observation of 27 NF1 patients (mean age 12.8 years) over 2-10 years.
- Utilized angiography, 24-hour ambulatory blood pressure monitoring, captopril testing, and Doppler ultrasonography.
- Assessed prevalence of hypertension and vascular lesions, and treatment outcomes.
Main Results:
- Hypertension prevalence was 18.5% in the NF1 cohort.
- Vascular lesions were found in 61.5% of patients undergoing angiography.
- Abnormal 24-hour blood pressure monitoring indicated early blood pressure dysregulation, even in apparently normotensive individuals.
- Percutaneous transluminal angioplasty (PTA) was effective for severe hypertension, though stenosis recurred in some cases.
Conclusions:
- Hypertension is a frequent complication of NF1 in pediatric patients, typically secondary to vascular lesions.
- Careful follow-up and ambulatory blood pressure monitoring are essential for early detection and management.
- PTA can be an effective treatment for severe hypertension in NF1, with potential for recurrence.
Abstract:
Neurofibromatosis type 1 (NF1) is associated with vascular lesions, such as renal artery stenosis, and secondary hypertension. The real prevalence is largely unknown, particularly in children. We observed 27 patients with NF1, mean age 12.8 years (range 4.2-24 years), for 2-10 years to assess the association of NF1 with vascular abnormalities and secondary hypertension. Patients were studied with angiography, 24-h blood pressure monitoring, a captopril test, and Doppler ultrasonography of aorta and renal arteries. The prevalence of hypertension was 18.5%; 61.5% of patients studied with angiography had vascular lesions, half of whom were apparently normotensive. However, they had abnormal 24-h blood pressure monitoring, which was a first sign of poor blood pressure control. Those patients with severe hypertension (11.1%) were successfully treated with percutaneous transluminal angioplasty (PTA); stenosis recurred in 2 of 3 patients after a 2-year follow-up period, and was responsive to drugs. We conclude that hypertension is a frequent complication of NF1 in pediatric patients, it is usually secondary to typical vascular lesions, and requires careful follow-up. Ambulatory blood pressure monitoring (24-h) is a sensitive method for detecting initial alterations of the blood pressure pattern. PTA may be an effective treatment in this condition.
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