Autosomal Dominant Polycystic Kidney Disease (ADPKD) is caused by mutations ofPKD1 or PKD2 gene, but there is no consolidated conclusion about how these gene mutations lead to the formation of renal cysts. The PKD1 gene and PKD2 gene encode proteins polycystin-1 (PC1) and polycystin-2 (PC2), respectively. The PC1/PC2 protein complex is involved in several common signaling pathways. Loss of PC1/PC2 leads to abnormal signaling pathways, resulting in renal cysts formation. Shh signaling pathway regulates cell morphogenesis and differentiation, and is closely related to the function of primary cilia. Shh signaling pathway also plays an important role in the development of various tissues and organs, and abnormal expression of Shh accounts for developmental disorder. PKD cells exhibit dysregulated proliferation and aberrant ciliogenesis. This indicates that the abnormality of Shh signaling pathway is corelated to ADPKD.
