Cellular pathophysiology of cystic kidney disease: insight into future therapies. Int J Dev Biol 1999;43(5):457-61
Date
10/27/1999Pubmed ID
10535324Scopus ID
2-s2.0-0032834946 (requires institutional sign-in at Scopus site) 12 CitationsAbstract
Polycystic kidney disease (PKD) is a developmental kidney disorder which can be inherited as either an autosomal dominant trait, with an incidence of 1:50 to 1:1000, or as an autosomal recessive trait with an incidence of 1:6,000 to 1:40,000. Three different genes have now been cloned that are associated with mutations that cause PKD. Two of these are linked to the most common forms of the dominant disease while the third is associated with the orpk mouse model of recessive polycystic kidney disease. Advances in understanding the molecular genetics of PKD have been paralleled by new insights into the cellular pathophysiology of cyst formation and progressive enlargement. Current data suggest that a number of PKD proteins may interact in a complex, which when disrupted by mutations in PKD genes may lead to altered epithelial proliferative activity, secretion, and cell matrix biology. The identification of a unique cystic epithelial phenotype presents new opportunities for targeted therapies. These include targeted gene therapy, gene complementation, and specific immunological or pharmacological interruption of growth factor pathways.
Author List
Avner ED, Woychik RP, Dell KM, Sweeney WEAuthor
Ellis D. Avner MD Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AnimalsErbB Receptors
Genetic Therapy
Humans
Membrane Proteins
Mice
Polycystic Kidney Diseases
Proteins
TRPP Cation Channels
Tumor Suppressor Proteins
Urothelium
