Cystic disease of the renal medulla associated with retinitis pigmentosa and imino acid abnormalities

Abstract

A 22 year old man with renal failure associated with salt wasting, retinitis pigmentosa, and imino acid abnormalities is reported. Renal tissue showed changes compatible with medullary cystic disease or juvenile nephronophtisis. Special studies were carried out to clarify the mechanism of renal salt wasting. Retinal pigmentary changes were found in three siblings and a male cousin; in two siblings studied abnormal retinal function was demonstrated. the parents who were first cousins once removed were normal. Fifty kindred members were examined and none showed unequivocal signs of renal disease. Autosomal recessive transmission of ocular and renal disease appeared likely. The separation of medullary cystic disease from juvenile nephronophthisis on the basis of onset and mode of inheritance is probably artificial.