Genetics of Polycystic Kidney Disease

Abstract
Polycystic kidney disease is one of the most common hereditary conditions. It is a genetic disorder which is characterized by formation of fluid-filled cysts in the kidneys of the affected individuals. These cysts multiply over time and displace healthy kidney tissue leading to renal dysfunction and renal failure. Kidneys enlarge to accommodate cysts and often weigh 10-20 pounds. In addition to causing renal cysts, this disease may affect pancreas, liver, central nervous system and seminal vesicles. Based on the mode of transmission, PKD is classified into autosomal dominant and autosomal recessive types. Autosomal dominant type is more prevalent type of disease, affecting approximately 1 in 500 individuals. Autosomal recessive type is more rare and also more severe type. Its prevalence is estimated to be 1 in 20,000-40,000 newborns worldwide.

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• Key genes and chromosomal location
• Types of PKD based on the mode of transmission
• Types of PKD based on the time of onset and their clinical features
• Genotype/phenotype correlation
• Role of genetic and environmental factors in the time of onset and disease progression
• Other disorders associated with PKD

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