Annotated Bibliography On Polycystic Kidney Disease

752 WordsJun 11, 20154 Pages
Assessment details: An Inherited Genetic Disease Title: Polycystic Kidney Disease Introduction Polycystic Kidney Disease (PKD) is a fairly common genetic disorder of the kidneys. It affects approximately 1in 750 people. There are 2 types, the autosomal dominant (ADPKD) and the autosomal recessive (ARPKD). Autosomal dominant (ADPKD) is far more common of the two. The disease presents with lots of cysts on the kidneys and can not be cured. Medication can manage the symptoms. The symptoms include urinary tract infections, high blood pressure and even renal failure as it progresses. Serial ultrasound scans are usually performed to monitor the cysts and to screen family members. How is the disease inherited? Most cases of this disease have an autosomal dominant pattern (ADPKD). These people with are born with a mutated copy of the PKD1 (85% of cases) or PKD2 (15% of cases) gene in each cell and this mutated gene is inherited from one of their affected parents in about 90% of the time. The other 10 percent of cases result from new mutations in people with no history of the disorder in their family. This is known as acquired polycystic kidney disease. The PKD1 gene is located on chromosome 16 and PKD2 gene is located on chromosome 4. Not only are there mutations in the DNA of these genes but there may also be large deletions that remove sometimes up to 10 genes. These mutations are also called germline mutations because they are present in the parent’s egg or sperm

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