Minimal Change Disease in a Young Adult With Neurofibromatosis Type 1

TL;DR

A young adult with Neurofibromatosis Type 1 developed a rare kidney disease that responded to steroid treatment, highlighting a possible connection between the disorder and kidney pathology.

Contribution

This case report highlights a rare association between Neurofibromatosis Type 1 and steroid-sensitive minimal change disease.

Findings

A 20-year-old NF1 patient was diagnosed with steroid-sensitive minimal change disease confirmed by renal biopsy.

The patient achieved remission with prednisolone but relapsed during tapering, requiring continued low-dose treatment.

The case suggests a possible biological link between NF1-related Ras signaling pathway dysregulation and podocyte injury in MCD.

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.

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