Polycystic Kidney Disease (PKD) represents a group of inherited disorders characterized by the development of numerous fluid-filled cysts within the kidneys. This review explores the epidemiology and risk factors associated with PKD, focusing on both autosomal dominant (ADPKD) and autosomal recessive (ARPKD) forms. ADPKD, primarily caused by mutations in the PKD1 and PKD2 genes, affects approximately 1 in 400 to 1,000 individuals globally, making it one of the most common genetic disorders affecting the kidneys. ARPKD, less prevalent yet severe, manifests early in life due to mutations in the PKHD1 gene.
Risk factors for PKD include family history, with ADPKD showing variable penetrance and genetic mutations leading to abnormal cystic proliferation in renal tissue. Clinical manifestations vary widely, from asymptomatic cysts to progressive renal failure, necessitating timely diagnosis and management. Understanding the epidemiology and risk factors of PKD is crucial for early detection, genetic counseling and therapeutic interventions aimed at delaying disease progression and improving patient outcomes.
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