PCGNs

PCGns, also known as Polycystic Kidney Disease genes, refer to the genetic factors contributing to Polycystic Kidney Disease (PKD), a group of genetic disorders characterized by the growth of numerous cysts filled with fluid in the kidneys.

PKD is primarily caused by mutations in two genes: PKD1 and PKD2. The PKD1 gene, which accounts for approximately 85% of ADPKD cases, is located on chromosome 16 while the PKD2 gene, which accounts for the remaining 15%, is located on chromosome 4. Mutations in these genes disrupt normal functioning of cystic fibrosis transmembrane conductance regulator (CFTR) protein, allowing cells in the kidney to proliferate and form cysts.

Research suggests that PKD may also involve a third gene, named PKHD1, which codes for a protein called fibrocystin. Although PKHD1 mutations are relatively rare, they cause a distinct form of PKD known as nephronophthisis, which is characterized by chronic progressive kidney disease.

In addition to genetic mutations, environmental factors and other gene interactions can influence the development and progression of PKD. The genetic basis of PKD has significant implications for risk assessment, diagnosis, and treatment of the disease. Complete genetic testing to identify individuals carrying PKD-causing mutations can help predict disease onset and progression, allowing for timely and effective interventions to slow disease progression. Furthermore, understanding the genetic underpinnings of PKD has opened up new avenues for research into the disease, enabling investigators to explore new therapeutic strategies and potential treatments.