Polycystic kidney disorder, also known as polycystic kidney disease (PKD), is a genetic condition characterized by the growth of numerous fluid-filled cysts in the kidneys. These cysts can vary in size and number and progressively enlarge over time, leading to kidney dysfunction. PKD is primarily classified into two main types: autosomal dominant polycystic kidney disease (ADPKD), which is the most common form, and autosomal recessive polycystic kidney disease (ARPKD), which is rarer and typically presents in infancy or early childhood. The primary cause of ADPKD is a genetic mutation in one of two genes, PKD1 or PKD2, which are responsible for producing proteins that maintain the normal structure of kidney cells. The mutation leads to the formation of cysts in the kidneys. ARPKD is caused by mutations in the PKHD1 gene, which affects the development of kidney tubules and liver bile ducts. Both forms of PKD are inherited, with ADPKD typically manifesting later in life and ARPKD presenting early in life or even at birth. Complications associated with polycystic kidney disorder can be severe. As cysts grow, they can cause pain, kidney enlargement, and a decrease in kidney function, potentially leading to chronic kidney disease and end-stage renal disease (ESRD). PKD can also cause high blood pressure, kidney stones, urinary tract infections, and complications related to cysts in other organs, such as the liver and pancreas. In severe cases, kidney function deterioration may require dialysis or kidney transplantation. Management of PKD focuses on controlling symptoms, monitoring kidney function, managing high blood pressure, and providing supportive care to address complications and improve quality of life. Regular follow-up with healthcare providers is essential for monitoring disease progression and planning appropriate interventions.
