Autosomic dominant Polycystic Kidney Disease

ADPKD is induced by mutations in the PKD1 or PKD2 genes, in 72-75% and 15-18% of families, respectively. These two genes encode the mechanosensor Polycystin-1 (PC1) and the calcium permeable non-selective cation channel Polycystin-2 (PC2), respectively.

Playing essential roles within different subcellular compartments, these two transmembrane proteins are crucial in regulating intracellular calcium homeostasis in the renal epithelium.

Indeed, the loss or dysfunction of either PC1 or PC2 leads to a reduction in basal intracellular calcium levels, which is thought to trigger cystogenesis. This genetic disorder results in renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney.

Rare Disease