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Juvenile nephronophthisis and medullary cystic disease.

Juvenile nephronophthisis and medullary cystic disease are morphologically indistinguishable hereditary renal disorders. These diseases have been described independently but very likely are a single disease entity and occur as a juvenile-onset, autosomal recessive form and as an adult-onset, autosomal dominant form. We agree with this hypothesis and present here the clinical, laboratory, and pathologic findings of six cases of the juvenile-onset, autosomal recessive form, along with an analysis of the mode of transmission of these and other published cases of the disorder.