Intractable Rare Dis Res. 2023;12(2):129-131. (DOI: 10.5582/irdr.2023.01018)

End-stage renal disease due to retroperitoneal fibrosis in neurofibromatosis type I

Ramanzini LG, Camargo LFM, Caixeta TLO, Louzada RC, Frare JM


Retroperitoneal fibrosis (RF) commonly leads to renal impairment due to compression of ureters, and around 8% of patients eventually progress to end-stage renal disease (ESRD). We present a case of RF in a 61-year-old female patient with neurofibromatosis type 1 (NF1) who developed ESRD. She presented with a postrenal acute kidney injury, being initially treated with an ureteral catheter. A magnetic resonance imaging of the abdomen showed parietal thickening of the right ureter, and she underwent right ureter reimplantation through bladder flap and psoas hitch. There was an extensive area of fibrosis and inflammation over the right ureter. Biopsy disclosed nonspecific fibrosis, which was consistent with RF. Although the procedure was successful, she developed ESRD. We review atypical presentations of RF and causes of renal injury in NF1. RF should be considered a possible cause of chronic kidney disease in patients with NF1, perhaps due to an unknown underlying mechanism.

KEYWORDS: end-stage renal disease, neurofibromatosis type 1, retroperitoneal fibrosis.

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