The Mutation, a Key Determinant of Phenotype in ADPKD

[摘要] 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.

[学科分类] 泌尿医学