| [ Summary ] |
Medullary cystic disease involves multiple cystic lesions associated with variable enlargement of the distal tubules and collecting ducts, along with interstitial fibrosis. Except for hereditary features and ages of presentation, medullary cystic disease and juvenile nephronophthisis are essentially identical, clinically and pathologically. Some authors wish to combine the two disorders under the name "juvenile nephronophthisis-medullary cystic disease complex". Medullary cystic disease is an autosomal dominant disorder that usually becomes present in adults, with progressively deteriorating renal function into the end stage. Medullary cysts, which range in diameter from 1mm to 10mm, usually appear at the corticomedullary junction. Only conservative treatments, including Na+ replacement, or erythropoietin, are available. When endstage renal disease is established after conservative treatment, hemodialysis, peritoneal dialysis, or kidney transplantation is indicated. |