Autosomal dominant polycystic kidney disease
VE Torres, PC Harris, Y Pirson - The Lancet, 2007 - thelancet.com
VE Torres, PC Harris, Y Pirson
The Lancet, 2007•thelancet.comAutosomal 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 …
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