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Adult Polycystic Kidney Disease

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Topic: Adult Polycystic Kidney Disease. Adult Polycystic Kidney disease is also known as Autosomal Dominant Polycystic Kidney Disease. ADPKD is the most common genetic cause of chronic renal disease. There is currently no cure for this deadly hereditary disease, but a comprehensive understanding of the disease by health care providers is of great importance. Referral to a nephrologist and prompt treatment eliminates health valued complications. An estimate of one in every five hundred people is affected by ADPKD, usually in patient population with end stage renal disease. ADPKD is a systemic disease that results from the mutation of either the PDK1 or PDK2 gene which is found on the short arm of chromosome 16 or chromosome 4 respectively. Birth genes encodes for polycostin -1 and polycytin -2 ion channel, proteins necessary for the proper functioning of renal filtration. Improper functioning of renal filtration lead to apoptosis, increased fluid sections, disorganized surrounding extracellular fluid leading to cyst enlargement. When these cyst enlarges they begin to compress causing ischemia and the occlusion of normal tubules in the kidneys leading to progressive renal impairment and function. A patient is diagnosed with ADPKD disorder will present with large kidneys, pain in the flank or abdominal region, chills, fever, hematuria, hypertension and blood vessel abnormalities. Unfortunately, no proven treatment is available for ADPKD. However, supportive and preventative care with the main goal been slowing the progression of renal failure, managing complications and prolonging life. Diet modification, control of hypertension, pain is of great importance. Management control of cholesterol levels which could further lead to CAD is of utmost. 50% of ADPKD patients will develop ESRD requiring a renal transplant or dialysis, thus the understanding of this deadly disease is of great importance allowing for early detection, management and appropriate referrals for treatment options.

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