polycystic kidney disease is a condition characterized by the development of multiple cysts within the renal tubules of the kidney and is the most common hereditary renal disease the normal functional unit of the kidney is the nephron made up of a glomerulus and Bowman's capsule proximal convoluted tubule Loop of henle distal convoluted tubule and the collecting duct blood filters through the glomerulus forming filtrate which then passes through the tubules undergoing see and reabsorption eventually forming urine and passing into the ureter and bladder overall there are around 1 million of these nephrons in each kid in polycystic kidney disease these tubules develop into cysts which become filled with fluid and can range in size from being microscopic to several centimeters in size the process can start even in utero meaning in the womb as the tubules become cysts they cannot carry the normal filtering function therefore the number of functioning nephrons begins to decrease this is worsened by the fact that as the cysts grow they compress nearby nephrons also making them dysfunctional initially this may not be seen to have any clinical impact as the remaining number of nephrons may increase there to maintain the glomerular filtration rate but as the disease progresses and more nephrons are affected the remaining ones cannot make up the difference overall renal function then deteriorates eventually reaching end-stage renal disease by definition the presence of structural injury makes polycystic kidney disease a form of chronic kidney disease with end-stage renal disease being defined as needing renal replacement therapy like dialysis or transplant or a GF far below 15 ml per minute there are two main types of polycystic kidney disease both caused by genetics the first is autosomal dominant with two main types one coming from mutations in P KD 1 on a chromosome 16 which codes for the protein polycystic in this is affected in around 85% of cases and is involved in cell to cell or cell Matrix interaction cell cycle regulation and calcium transport the second coming from mutations in PKD to on chromosome for coding for Polly system to which codes for
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