Genetic Mechanisms of Neurofibromatosis Related Arteriopathy and Renovascular Hypertension
Abstract
Renovascular hypertension (HTN) secondary to renal artery and abdominal aortic stenosis (arterial dysplasia, AD) is an important cause of pediatric HTN, the natural history of which, left untreated, risks heart failure, hypertensive encephalopathy, stroke and early mortality.Neurofibromatosis type 1 (NF-1) is a common cause of pediatric renovascular HTN. A third of pediatric AD patients in the University of Michigan experience carry a diagnosis of NF-1 and vasculopathy has been identified in up to 18% of individuals with NF-1 in other series. Histopathology of operative renal artery samples from these patients, including cases of NF-1, shows significant intimal hyperplasia, medial thinning and disruption of the elastic lamina. Interestingly, the histopathology and angiographic appearance of aortorenal lesions appears similar in children with developmental AD with and without a clinical NF-1 diagnosis. The specific inheritance mode and genetic basis of vascular involvement in NF-1 remains undefined. Somatic mutation as a mechanisms of arterial disease has not been previously investigated.
Document Details
- Document Type
- Technical Report
- Publication Date
- May 01, 2023
- Accession Number
- AD1217485
Entities
People
- Santhi Ganesh
Organizations
- University of Michigan