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.
D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007668:Kidney / Q000473:pathology; D007674:Kidney Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D052177:Kidney Diseases, Cystic / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male