Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal, monogenic disorder. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. An increased understanding of the disorder's underlying genetic, molecular, and cellular mechanisms and a better appreciation of its progression and systemic manifestations have laid out the foundation for the development of clinical trials and potentially effective treatments.
Torres, V. E., Harris, P. C., & Pirson, Y. (2007). Autosomal dominant polycystic kidney disease. The Lancet, 369(9569), 1287-1301. https://doi.org/10.1016/S0140-6736(07)60601-1 (Original work published 2007)