Pathology of renal dysplasia and bladder aplasia-hypoplasia in a flock of sheep.

Congenital renal disease was detected in a flock of sheep in the English Midlands over 2 successive years (1982 and 1983). A Suffolk ram was removed from the flock and test mated to unrelated Suffolk ewes in another flock; 14 of the resulting 43 lambs born in 1984 had an identical congenital renal disease. Kidneys were examined microscopically from 60 clinically affected neonatal lambs. Kidneys from 7 of the 60 clinically affected neonatal lambs (1, 1983; 6, 1984) were examined ultrastructurally and compared with kidneys from 3 healthy unrelated neonatal lambs. Most affected lambs examined (52/60) had bilaterally small kidneys (< or = 2 g) with fine intracortical cysts and distinct cortical and medullary zones. Kidneys were either grossly normal (3/60 lambs) or multicystic and of normal size to markedly enlarged (5/60 lambs). The bladder was absent or vestigial in most lambs. Microscopically, poorly differentiated ("primitive") tubules were present in renal cortex and medulla. Proximal convoluted tubules, where present, were formed by epithelial cells with distinctive round weakly autofluorescent intracytoplasmic inclusions with the ultrastructural appearance of atypical lysosomes. Loops of Henle, distal convoluted tubules, and juxtaglomerular-peripolar cell complexes were largely absent. Glomerular changes were minimal. Cystic dilatation of nephrons was restricted to proximal convoluted tubules lined by vacuolated epithelium. This distinctive congenital renal dysplasia of sheep was most likely inherited as a dominant trait with complete penetrance.