Defective metabolism in polycystic kidney disease: Potential for therapy and open questions

Isaline Rowe, Alessandra Boletta

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)1480-1486
Number of pages7
JournalNephrology Dialysis Transplantation
Issue number8
Publication statusPublished - 2014


  • glucose metabolism
  • glycolysis inhibitors
  • renal cyst
  • therapeutical approach

ASJC Scopus subject areas

  • Nephrology
  • Transplantation


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