Diagnosis, pathogenesis, and treatment prospects in cystic kidney disease.
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.
Bergmann
Carsten
C
Department of Human Genetics, Aachen University, Aachen, Germany.
Frank
Valeska
V
Küpper
Fabian
F
Kamitz
Dirk
D
Hanten
Jens
J
Berges
Peter
P
Mager
Silke
S
Moser
Markus
M
Kirfel
Jutta
J
Büttner
Reinhard
R
Senderek
Jan
J
Zerres
Klaus
K
D005838:Genotype; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D017044:Polycystic Kidney, Autosomal Recessive / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D011956:Receptors, Cell Surface / Q000235:genetics / Q000378:metabolism; D050396:TRPP Cation Channels / Q000378:metabolism
D011956:Receptors, Cell Surface; D050396:TRPP Cation Channels; C451750:PKHD1 protein, human