Renal tubular dysgenesis in siblings.

Renal tubular dysgenesis is a recently recognized autosomal recessive condition characterized by absence or poor development of proximal convoluted tubules, clinical presentation of oligohydromnios, Potter sequence, and neonatal respiratory failure. Only a few cases of renal tubular dysgenesis have been diagnosed. We report 2 cases from a single family. Histologically, the renal cortices showed crowding of the glomeruli and primitive tubules, most of which demonstrated positive cytoplasmic staining for epithelial membrane antigen and peanut lectin. Electron microscopy of the kidneys of the second baby revealed absence of differentiated characteristics of the proximal tubules.