Síndrome nefrótico secundario en neurofibromatosis tipo 1. A propósito de dos casos

Abstract

Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous disorder with systemic clinical manifestations. There are few publications about the renal effects of this disease, with renal vascular disease and adrenal tumors being the most frequent forms of renal involvement, while cases describing glomerular effects are exceptional. Despite the lack of published information, common molecular mechanisms in both NF-1 and nephrotic syndrome, involving the mTOR pathway, were suggested to explain a possible association between both pathologies. We present two cases of renal involvement in the form of nephrotic syndrome in patients diagnosed with NF1. A 41-year-old female was diagnosed of NF-1 in the context of a nephrotic syndrome with resistance to steroid treatment; the renal biopsy revealed a diagnosis of minimal changes disease. The second case is other 71-year-old woman with a history of NF-1, who presented a nephrotic syndrome and secondary renal amyloidosis.