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.

Autosomal dominant polycystic kidney disease: from genes to cilium / Magistroni, Riccardo; Furci, L; Albertazzi, Alberto; G., ITAL NEFROL. - In: GIORNALE ITALIANO DI NEFROLOGIA. - ISSN 0393-5590. - STAMPA. - 25 (2):(2008), pp. 183-191.

Autosomal dominant polycystic kidney disease: from genes to cilium.

MAGISTRONI, Riccardo;ALBERTAZZI, Alberto;
2008

Abstract

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.
25 (2)
183
191
Autosomal dominant polycystic kidney disease: from genes to cilium / Magistroni, Riccardo; Furci, L; Albertazzi, Alberto; G., ITAL NEFROL. - In: GIORNALE ITALIANO DI NEFROLOGIA. - ISSN 0393-5590. - STAMPA. - 25 (2):(2008), pp. 183-191.
Magistroni, Riccardo; Furci, L; Albertazzi, Alberto; G., ITAL NEFROL
File in questo prodotto:
File Dimensione Formato  
p.183-191.pdf

non disponibili

Tipologia: Versione dell'editore (versione pubblicata)
Dimensione 424.01 kB
Formato Adobe PDF
424.01 kB Adobe PDF   Visualizza/Apri   Richiedi una copia
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

Licenza Creative Commons
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/611738
Citazioni
  • ???jsp.display-item.citation.pmc??? 3
  • Scopus 3
  • ???jsp.display-item.citation.isi??? ND
social impact