Renal artery stenosis and aneurysms associated with neurofibromatosis

Abstract

Renal artery lesions associated with neurofibromatosis may involve stenosis and aneurysm formation at all levels of the renal artery to the intraparenchymal branches, and usually are associated with hypertension. A 13-year-old boy with type I neurofibromatosis and severe hypertension presented with multiple aneurysms and multiple stenotic lesions in the renal artery and segmental arteries. The patient underwent ex-vivo renal artery repair with autologous hypogastric artery and autotransplantation to the iliac fossa and was clinically improved. The characteristic histologic findings are presented. A review of the recent literature comparing different treatment modalities for renovascular hypertension in children with neurofibromatosis suggests that surgery remains the best treatment alternative.

Clinical and genetic aspects of neurofibromatosis 1

“…A renovascular cause is often found in children with NF1 and hypertension. 49,50 A characteristic NF1 vasculopathy can cause arterial stenosis, occlusion, aneurysm, pseudoaneurysm, rupture, or arteriovenous fistula formation. NF1 vasculopathy involving the arteries of the heart or brain or other major arteries can have serious or even fatal consequences.…”

High prevalence of elevated blood pressure among children with neurofibromatosis type 1

“…Overall, 646 BP measurements were performed in this cohort, amounting to an average of 2.9 measurements per subject (range, [1][2][3][4][5][6][7][8]. BP values were in the pre-HTN and HTN range in 14.9 % (96/646) and 16.9 % (109/646) of these measurements, respectively.…”

“…In contrast to adults for whom most cases of HTN are considered primary, a specific etiology can be identified in many pediatric HTN patients for whom HTN is defined as secondary [3,4]. The most common etiology of secondary HTN among children is renal disease [5][6][7]. Neurofibromatosis type 1 (NF1), vasculitis, and Takayasu disease are considered the next most common specific etiologies associated with secondary HTN in children [8].…”

Skin Examination: An Important Diagnostic Tool in Renal Failure Patients

“…Neurofibromatosis may cause renal failure due to renal artery stenosis, infarction, and aneurysm [23]. Skin manifestations include axillary freckling, café au lait macules (flat, hyperpigmented macules), cutaneous neurofibromas, and plexiform neurofibromas.…”