Severe intrarenal fibrosis, infundibular stenosis, renal cysts, and persistent perilobar nephrogenic rests in a patient with Beckwith-Wiedemann syndrome 27 years after diffuse nephroblastomatosis and Wilms tumor: natural progression or a consequence of treatment?

ABSTRACT

A27-year-old woman presented with back and abdominal pain. She was diagnosed in infancy with Beckwith-Wiedemann syndrome and bilateral multifocal perilobar nephrogenic rests that progressed to diffuse nephroblastomatosis with neoplastic nephroblastomatous rests at 14 months of age and subsequently to a right Wilms tumor at 5 years of age. Computed tomography of the abdomen during the current admission showed multiple obstructed calices. Ureteroscopic inspection of the left kidney revealed severe intrarenal scarring with multiple infundibular stenosis, hydrocalices, and nephrocalcinosis. Renal biopsy showed sclerotic glomeruli with calcification and scarring and persistent subcapsular nodular renal blastema. Electrocautery incision and balloon dilatation provided temporary pain relief. After discharge, the patient has had two or three episodes of recurrent pain associated with new areas of infundibular stenoses and renal cysts. Bilateral nephrectomy and renal transplantation is being considered for management of progressive disease and relief of intractable pain. The potential causes of progressive and severe intrarenal fibrosis, infundibular stenosis and nephrocalcinosis, and renal cysts in this patient may include abnormal renal development secondary to Beckwith-Wiedemann syndrome itself, radiation or chemotherapy damage, or a combination.