Familiaire cystenieren: jongvolwassen familieleden screenen of niet?

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease, with a global prevalence of 10 per 10,000. It is characterized by the formation of numerous cysts in both kidneys, and leads to renal function loss; the majority of patients will eventually need renal replacement therapy. It is possible to screen patients’ presymptomatic family members from a young age, but this has not historically been recommended as until recently there were no treatment options. This year, the vasopressin V2 receptor antagonist tolvaptan was approved for prescription in ADPKD, to slow the rate of renal function decline. The availability of this new treatment option, along with other factors such as the possible use of IVF procedures with pre-implantation genetic diagnosis, imply that we have to rethink the issue of presymptomatic screening. Young adults at-risk should be screened, to give them the chance to opt for treatment.

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