Polycystic kidney disease

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Polycystic Kidney Disease (PKD or PCKD, also known as polycystic kidney syndrome) is a cystic genetic disorder of the kidneys.[1] There are two types of PKD: Autosomal Dominant Polycystic Kidney Disease (ADPKD) and the less-common Autosomal Recessive Polycystic Kidney Disease (ARPKD).

It occurs in humans and some other animals. PKD is characterized by the presence of multiple cysts (hence, "polycystic") in both kidneys. The cysts are numerous and are fluid-filled resulting in massive enlargement of the kidneys. The disease can also damage the liver, pancreas, and in some rare cases, the heart and brain. The two major forms of polycystic kidney disease are distinguished by their patterns of inheritance.

Polycystic Kidney Disease is the most common genetic, life threatening disease affecting an estimated 12.5 million people worldwide.[citation needed]



Autosomal dominant

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 occurs in 1:400–1:1,000 individuals worldwide and accounts for ~4% of end-stage renal disease (ESRD). Over 90% of cases are inherited as an autosomal dominant trait, with the remainder likely representing spontaneous mutations. Mutations in the PKD-1 gene on chromosome 16 (ADPKD-1) account for 85% of cases, whereas mutations in the PKD-2 gene on chromosome 4 (ADPKD-2) represent the remainder. A few families appear to have a defect at a site that is different from either of these loci. Direct mutation analysis of isolated cysts suggests there is loss of heterozygosity, whereby a somatic mutation in the normal "wild-type" allele of a small number of Renal tubule leads to unregulated Cell growth of the cells that ultimately form the cyst lining.

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