Medullary cystic kidney disease

Medullary cystic kidney disease is an autosomal dominant kidney disorder in which tubulointerstitial sclerosis slowly destroys kidney function and can lead to end-stage renal disease. Because cysts are neither an early nor a typical feature, and because several different gene mutations can cause it, the name autosomal dominant tubulointerstitial kidney disease has been proposed, followed by the underlying genetic variant. Two forms have long been known, mucin-1 kidney disease from MUC1 mutations and uromodulin kidney disease from UMOD mutations, and a third arises from mutations in the renin gene. In each, a misfolded protein builds up inside kidney tubule cells and gradually kills them. The disease is uncommon and hard to diagnose, progresses at a variable rate, and some patients need dialysis in their thirties while others not until later. Some also develop gout. Cysts in the medullary collecting ducts can leave a shrunken kidney, unlike polycystic kidney disease.