Autosomal dominant polycystic kidney disease

VE Torres, PC Harris, Y Pirson - The Lancet, 2007 - thelancet.com
VE Torres, PC Harris, Y Pirson
The Lancet, 2007thelancet.com
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 …
Summary
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.
thelancet.com