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Polycystic kidney disease (PKD) is one of the most common life-threatening genetic disorders caused by single-gene mutations. Its true prevalence is unknown but, based on autopsy studies, it may affect more than 100,000 persons in the United States, and millions more worldwide. It is characterized by the presence of fluid-filled cysts in the nephrons of both kidneys, eventually leading to kidney failure in the majority of affected individuals. PKD is the fourth most common cause of chronic renal insufficiency or end-stage kidney disease (ESKD). Fifty per cent of adult PKD patients will require dialysis or kidney transplantation within their 6th decade.
There are at least two major types of PKD: autosomal-dominant (AD) PKD and autosomal-recessive (AR) PKD. The genes responsible for these two types of PKD, PKD1 and PKD2 for ADPKD, and PKHD1 for ARPKD, have been identified in the past 20 years. In addition to genetic factors, molecular, cellular and epigenetic factors that contribute to the development of PKD have also been unravelled. This book focuses on the basic and clinical aspects of the burgeoning PKD research. It contains the current information on the diagnosis, management and treatment of PKD; the most recent, pertinent and comprehensive information on the mechanisms of cyst formation in PKD; and the latest information on extra-renal manifestations associated with PKD. Read more…..
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