The mutation, a key determinant of phenotype in ADPKD
PC Harris, K Hopp - Journal of the American Society of …, 2013 - journals.lww.com
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common
monogenic diseases (frequency 1: 500–1000) and a classic dominant disease with a
penetrance of practically 100%, if defined as the development of multiple bilateral cysts in a
family member that inherits a defined mutation. However, the severity of disease, even in
mutation characterized cases, varies greatly. At one extreme are those that live into old age
and develop just a few cysts with no renal insufficiency, whereas at the other end of the …
monogenic diseases (frequency 1: 500–1000) and a classic dominant disease with a
penetrance of practically 100%, if defined as the development of multiple bilateral cysts in a
family member that inherits a defined mutation. However, the severity of disease, even in
mutation characterized cases, varies greatly. At one extreme are those that live into old age
and develop just a few cysts with no renal insufficiency, whereas at the other end of the …
