Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a common genetic disorder characterized by bilateral renal cyst formation. Several aspects of the genetic and molecular mechanisms underlying cyst formation in this disease are still controversial, but there is today general agreement on ADPKD being a loss-of-function disease. In this brief article we specifically discuss 2 aspects: (i) we try to give an overview of the state-of-the-art of our current understanding of the genetic and molecular basis of the disease, trying to provide an integrated view of the different models of cystogenesis proposed; (ii) we provide a detailed description and a discussion of the recent findings reported by our laboratory on defective glucose metabolism in ADPKD and its potential therapeutical implications, highlighting also the need for further validation of our findings in additional animal models of late onset and slow progression.
Rowe, I., Chiaravalli, M., & Boletta, A. (2013). Defects of Glucose Metabolism in Polycystic Kidney Disease: First Studies and Future Perspectives. Giornale Di Clinica Nefrologica E Dialisi, 25(2), 172–179. https://doi.org/10.33393/gcnd.2013.1032