Stokman Marijn, Lilien Marc, Knoers Nine
Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands
Department of Pediatric Nephrology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands
The purpose of this overview is to: 1.. Briefly describe the clinical characteristics of nephronophthisis-related ciliopathies; 2.. Review the genetic causes of nephronophthisis-related ciliopathies; 3.. Review the differential diagnosis of nephronophthisis-related ciliopathies with a focus on genetic conditions; 4.. Provide an evaluation strategy to identify the genetic cause of a nephronophthisis-related ciliopathy in a proband (when possible); 5.. Review management of nephronophthisis-related ciliopathies; 6.. Inform genetic counseling of an individual with a nephronophthisis-related ciliopathy and their family members.
