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Defective metabolism in polycystic kidney disease: potential for therapy and open questions
- Source :
- Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 29(8)
- Publication Year :
- 2014
-
Abstract
- Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder characterized by bilateral renal cyst formation. The disease is caused by mutations in either the PKD1 or the PKD2 gene. Progress has been made in understanding the molecular basis of the disease leading to the general agreement on ADPKD being a loss-of-function disease. Identification of signalling cascades dysfunctional in the cystic epithelia has led to several pre-clinical studies of animal models using a variety of inhibitors to slow disease progression. These were followed by clinical trials, some of which generated promising results, although an approved therapy is still lacking. Here, we summarize and discuss recent work providing evidence that metabolic alterations can be observed in ADPKD. In particular, we will focus our discussion on the potential role of glucose metabolism in the pathogenesis of ADPKD. These recent findings provide a new perspective for the understanding of the pathobiology of ADPKD and open potential new avenues for therapeutical approaches. At the same time, these studies also raise important and intriguing biological and medical questions that will need to be addressed experimentally prior to embracing a more enthusiastic view of the applicability of the results.
- Subjects :
- medicine.medical_specialty
TRPP Cation Channels
Autosomal dominant polycystic kidney disease
Disease
urologic and male genital diseases
Bioinformatics
Kidney
Pathogenesis
Internal medicine
medicine
Polycystic kidney disease
Animals
Humans
Transplantation
Defective metabolism
PKD1
urogenital system
business.industry
Genetic disorder
Disease Management
DNA
medicine.disease
Polycystic Kidney, Autosomal Dominant
female genital diseases and pregnancy complications
Clinical trial
Endocrinology
Glucose
Nephrology
Mutation
business
Energy Metabolism
Glycolysis
Subjects
Details
- ISSN :
- 14602385
- Volume :
- 29
- Issue :
- 8
- Database :
- OpenAIRE
- Journal :
- Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
- Accession number :
- edsair.doi.dedup.....c00ff8c7e15c81d9da54675c9cdb2563