Glomerulonephritis associated with male pseudohermaphroditism and nephroblastoma

Abstract

A child with male pseudohermaphroditism, Wilms' tumor, and glomerulonephritis (Drash syndrome) was found to have a proliferative glomerular lesion, extensive renal cortical interstitial and glomerular scarring, and marked renal tubular foam cell change. By electron microscopy, dense deposits were seen in mesangial areas with focal extension into the subendothelial space. Segmental deposits of immunoglobulin and complement were found in the glomeruli by immunofluorescence microscopy. A consistent karyotypic abnormality consisting of isochromosomes of the long arms of 1 and 17, and an interstitial deletion of the long arm of 5 was found in cultures of tumor cells, but no karyotypic abnormalities were found in peripheral blood lymphocytes or non-neoplastic kidney. Renal failure in this case has progressed despite the surgical removal of the tumor. These findings are similar to those reported previously in patients with this syndrome and suggest a common pathophysiological abnormality in all of the patients reported so far.