Autosomal dominant polycystic kidney disease (ADPKD) is a quite frequent monogenic hereditary disease. The incidence has been reported to range between 1:400 and 1:1000 life births. The disease is caused by a mutation of the PKD1 gene in 85% of the cases and by a mutation of the PKD2 gene in the remaining 15%. The main characteristic of this condition is the development of renal cysts. Observations regarding various cystic kidney diseases sustained by mutations of different genes are steadily converging to a common point. This unifying element is the primary cilium. The cilium, which has long been considered a mere biological oddity, has lately become the focus of intense scientific attention because it may turn out to be the key to the understanding of cystic degeneration. The cilia can be regarded as sensors projecting out of the cell. In particular in the kidney they are located in an ideal place to capture information from the tubular lumen. One of the roles the cilia may play is the reception of chemical signals. An alternative hypothesis attributes to the cilia the role of mechanosensors capable of detecting variations of the urine flux in the tubular lumen. The cilium projects itself into the lumen where it can readily capture variations in the external environment and transmit them to the cell by as yet undefined pathways. This is the still largely unexplored frontier that will provide the elements needed to understand and treat renal cystic diseases.
|Translated title of the contribution||Autosomal dominant polycystic kidney disease: from genes to cilium|
|Number of pages||9|
|Journal||Giornale italiano di nefrologia : organo ufficiale della Società italiana di nefrologia|
|Publication status||Published - Mar 2008|
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