New insights into the molecular pathophysiology of polycystic kidney disease. Kidney Int 1999 Apr;55(4):1187-97
Date
04/14/1999Pubmed ID
10200981DOI
10.1046/j.1523-1755.1999.00370.xScopus ID
2-s2.0-0032949167 (requires institutional sign-in at Scopus site) 113 CitationsAbstract
Polycystic kidney diseases are characterized by the progressive expansion of multiple cystic lesions, which compromise the function of normal parenchyma. Throughout the course of these diseases, renal tubular function and structure are altered, changing the tubular microenvironment and ultimately causing the formation and progressive expansion of cystic lesions. Renal tubules are predisposed to cystogenesis when a germ line mutation is inherited in either the human PKD1 or PKD2 genes in autosomal dominant polycystic kidney disease (ADPKD) or when a homozygous mutation in Tg737 is inherited in the orpk mouse model of autosomal recessive polycystic kidney disease (ARPKD). Recent information strongly suggests that the protein products of these disease genes may form a macromolecular signaling structure, the polycystin complex, which regulates fundamental aspects of renal epithelial development and cell biology. Here, we re-examine the cellular pathophysiology of renal cyst formation and enlargement in the context of our current understanding of the molecular genetics of ADPKD and ARPKD.
Author List
Murcia NS, Sweeney WE Jr, Avner EDAuthor
Ellis D. Avner MD Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AnimalsApoptosis
Cell Division
Cyst Fluid
ErbB Receptors
Extracellular Matrix
Growth Substances
Humans
Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Recessive
Proto-Oncogene Proteins
Signal Transduction
