[Secondary glomerulonephritis in neurofibromatosis type 1. Two case reports]. / Síndrome nefrótico secundario en neurofibromatosis tipo 1. A propósito de dos casos.

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.

Síndrome nefrótico secundario en neurofibromatosis tipo 1. A propósito de dos casos / Secondary glomerulonephritis in neurofibromatosis type 1. Two case reports

La Neurofibromatosis tipo I (NF-1) es un desorden neurocutáneo, con clínica multisistémica de tipo autosómica dominante de diagnóstico clínico. Hay escasas publicaciones sobre la afectación rwnal de esta enfermedad, siendo la patología vascular renal y los tumores suprarrenales, la forma de afectación renal más frecuente, y excepcional los casos descritos de afectación glomerular. Presentamos dos casos de síndrome nefrótico en pacientes con diagnóstico de NF-1. El primer caso, la paciente es una mujer de 41 años, diagnosticada de NF-1 durante el estudio de un síndrome nefrótico córtico-resistente, con diagnóstico de cambios mínimos. El segundo caso es una mujer de 71 años con antecedente de NF-1, con un síndrome nefrótico y una amiloidosis renal secundaria. A pesar de la escasez de información publicada actualmente sobre ello, se ha sugerido una posible asociación entre la NF-1 y el síndrome nefrótico, debida a mecanismos moleculares comunes en ambas patologías. Destacamos la importancia de estudiar un origen primario tratable del síndrome nefrótico

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