[Secondary glomerulonephritis in neurofibromatosis type 1. Two case reports]

Area of Science:

• Nephrology
• Genetics
• Oncology

Background:

• Neurofibromatosis type 1 (NF-1) is a genetic disorder with diverse systemic effects.
• Renal involvement in NF-1 is uncommon, typically involving vascular disease or adrenal tumors.
• Glomerular manifestations of NF-1 are exceptionally rare in medical literature.

Observation:

• This report details two distinct cases of nephrotic syndrome in patients with NF-1.
• Case 1: A 41-year-old female with NF-1 presented with steroid-resistant nephrotic syndrome; renal biopsy showed minimal change disease.
• Case 2: A 71-year-old female with a history of NF-1 developed nephrotic syndrome with secondary renal amyloidosis.

Findings:

• The findings indicate a potential, albeit infrequent, association between NF-1 and nephrotic syndrome.
• Minimal change disease and secondary amyloidosis represent the glomerular pathologies observed.
• The mTOR pathway is implicated as a potential shared molecular mechanism.

Implications:

• These cases expand the understanding of NF-1's systemic manifestations into glomerular diseases.
• Further research into the mTOR pathway may elucidate the link between NF-1 and nephrotic syndrome.
• This highlights the importance of considering renal involvement in NF-1 patients presenting with nephrotic symptoms.