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What is Autosomal recessive polycystic kidney disease is characterised by the altered expression of: and explain in detail?
Fibrocystin (polyductin) gene mutation is seen in autosomal recessive polycystic kidney disease. Note: Polycystin mutation is associated with autosomal dominant polycystic kidney disease. Nephrocystin is related to nephronophthisis. Uromodulin mutation is seen in medullary cystic kidney disease. Ref: Harrisons principles of internal medicine, 18th edition, Page: 2356.