Diagnosis, pathogenesis, and treatment prospects in cystic kidney disease

• Published in: Molecular diagnosis & therapy Vol. 10; no. 3; pp. 163 - 174
• Main Authors: Bergmann, Carsten, Frank, Valeska, Küpper, Fabian, Kamitz, Dirk, Hanten, Jens, Berges, Peter, Mager, Silke, Moser, Markus, Kirfel, Jutta, Büttner, Reinhard, Senderek, Jan, Zerres, Klaus
• Format: Journal Article
• Language: English
• Published: New Zealand Wolters Kluwer Health, Inc 01.01.2006
• Subjects: Genotype; Humans; Kidney Diseases, Cystic - diagnosis; Kidney Diseases, Cystic - drug therapy; Kidney Diseases, Cystic - genetics; Kidney Diseases, Cystic - physiopathology; Phenotype; Polycystic Kidney, Autosomal Dominant - diagnosis; Polycystic Kidney, Autosomal Dominant - drug therapy; Polycystic Kidney, Autosomal Dominant - genetics; Polycystic Kidney, Autosomal Dominant - physiopathology; Polycystic Kidney, Autosomal Recessive - diagnosis; Polycystic Kidney, Autosomal Recessive - drug therapy; Polycystic Kidney, Autosomal Recessive - genetics; Polycystic Kidney, Autosomal Recessive - physiopathology; Receptors, Cell Surface - genetics; Receptors, Cell Surface - metabolism; TRPP Cation Channels - metabolism
• ISSN: 1177-1062; 1179-2000
• DOI: 10.1007/BF03256455

Cystic kidney diseases (CKDs) are a clinically and genetically heterogeneous group of disorders characterized by progressive fibrocystic renal and hepatobiliary changes. Recent findings have proven the cystogenic process to be compatible with cellular dedifferentiation, i. e. increased apoptosis and proliferation rates, altered protein sorting and secretory characteristics, as well as disorganization of the extracellular matrix. Compelling evidence suggests that cilia play a central pathogenic role and most cystic kidney disorders converge into a common pathogenic pathway. Recently, several promising trials have further extended our understanding of the pathophysiology of CKD and may have the potential for rational personalized therapies in future years. This review aims to summarize the current state of knowledge of the structure and function of proteins underlying polycystic kidney disease, to explore the clinical consequences of changes in respective genes, and to discuss potential therapeutic approaches.