Polycystic Kidney Disease

Posted by e-Medical PPT Friday, September 24, 2010
Polycystic Kidney Disease is a cystic genetic disorder of the kidneys.The cysts are numerous and are fluid-filled resulting in massive enlargement of the kidneys. The disease can also damage the liver and pancreas.There are two types of PKD: Autosomal Dominant Polycystic Kidney Disease (ADPKD) and the less-common Autosomal Recessive Polycystic Kidney Disease (ARPKD).ADPKD is a late-onset disorder characterized by progressive cyst development and bilaterally enlarged kidneys with multiple cysts. It is a genetic disorder resulting from mutations in either the PKD-1 or PKD-2 gene. Cyst formation begins in utero from any point along the nephron, although <5% of total nephrons are thought to be involved. As the cysts accumulate fluid, they enlarge, separate entirely from the nephron, compress the neighboring renal parenchyma, and progressively compromise renal function.ADPKD accounts for 4% of end-stage renal disease (ESRD). Over 90% of cases are inherited as an autosomal dominant trait.
Presenting symptoms and signs include abdominal discomfort, hematuria, urinary tract infection, incidental discovery of hypertension, abdominal mass, elevated serum creatinine, or cystic kidneys on imaging studies, patients usually have renal pain, and develop renal insufficiency.Hematuria may result from cyst rupture into the collecting system or from uric acid or calcium oxalate kidney stones.Hypertension is common and often precedes renal dysfunction.
The sensitivity of renal ultrasonography for the detection of ADPKD is 100% for subjects 30 years or older with a positive family history. Diagnostic criteria require two or more cysts in one kidney and at least one cyst in the contralateral kidney in young subjects, but four or more in subjects older than 60 years.

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