Cystic Kidney Disease Panel

Cystic kidney disease is a genetic condition where fluid-filled cysts form in the kidneys, causing them to enlarge and lose function over time, leading to kidney failure. The most common genetic cause is Autosomal Dominant Polycystic Kidney Disease (ADPKD), affecting around 1 in 800 people and caused by mutations in the PKD1 or PKD2 genes. These genes are responsible for coding a protein called polycystin, which regulates multiple signalling pathways to maintain normal renal tubular structure and function. Another type is Autosomal Recessive Polycystic Kidney Disease (ARPKD), which is less common and usually affects children, but involves different symptoms and is caused by biallelic pathogenic variants in PKHD1 gene.