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Renal lesions of familial juvenile nephronophthisis examined by microdissection.

Renal lesions from four individuals afflicted with familial juvenile nephronophthisis were examined by light microscopy and microdissection. By microdissection: (1) tubules were altered by multiple diverticula; (2) the nephrons were strikingly heterogeneous in size; (3) cysts were confined to collecting and distal convoluted tubules. The only change in Henle’s loops was the presence of multiple diverticula. Changes in paraffin sections were: (1) diffuse rather than focal interstitial fibrosis; (2) focal interstitial infiltration, predominately of lymphocytes and plasma cells; (3) widely disseminated atrophy of glomeruli, often with pericapsular fibrosis and without glomerular cellular infiltration or extraglomerular vascular change; (4) mixed atrophy and hyperplasia of tubules, with irregular outlines and macula densa-like lesions; (5) focally thickened basement membranes; and (6) cysts in the medeulla or at the corticomedullary junction.