2009, 2009, 2009, 2008, 2009
Polycystic kidney disease is the most common genetic, life-threatening disease, affecting more than 12.5 million people worldwide. Fluid-filled renal cysts that eventually destroy renal tissue and renal function altogether are characteristic of polycystic kidney disease. The autosomal dominant form of the disease which is also the most common form, ADPKD, is linked to mutations in the genes PKD1 and PKD2. The complete normal function of PKD1 and PKD2 is unknown, but most research suggests that they play some role in cell signaling and controlling the cell cycle. The diseased phenotype is thought to be caused by mutations in these genes that cause misregulation of the cell cycle leading to proliferation. The recessive form of polycystic kidney disease, ARPKD, is triggered by a mutation in the gene PKHD1 and is manifested more severely than the dominant form. ARPKD has not been as widely studied as ADPKD because it affects fewer people than the dominant form of the disease. Currently, there is no treatment for any of the forms of PKD, though some studies have shown some promise in effectively attenuating renal cystic growth.
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