Year: 2025
Type: article
Study design: Case Report
Abstract: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by café-au-lait macules, neurofibromas, and a predisposition to various tumors. While the disease is primarily associated with neural and dermatologic manifestations, renal involvement is extremely rare. We present the case of a 20-year-old woman with NF1 who developed steroid-sensitive minimal change disease (MCD) confirmed by renal biopsy. MRI findings revealed plexiform neurofibromas involving the cervical nerve roots and the right temporal region. The patient was started on prednisolone 40 mg/day, achieving remission with normalized proteinuria, but relapsed with edema and proteinuria (7.74 g/L) during tapering. Prednisone was re-initiated at 30 mg/day, tapered to 2.5 mg every other day, and she remains in clinical and biochemical remission while continuing this low dose, with plans to discontinue after one month if remission persists. As researchers, the authors aim to report this rare association to advance scientific understanding of NF1-related renal pathology. This case underscores the importance of considering renal pathology in NF1 patients with nephrotic syndrome and raises the possibility of a biologically plausible link between NF1-related dysregulation of the Ras signaling pathway and podocyte injury as observed in MCD.
Source: Cureus
DOI: 10.7759/cureus.85466
Language: English
Subfield: Nephrology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4411091476