Figure 927

Autosomal-dominant polycystic kidney disease (ADPKD): presymp-tomatic diagnosis. Presymptomatic diagnosis is aimed at both detecting affected persons (to provide follow-up and genetic counseling) and reassuring unaffected ones. Until a specific treatment for ADPKD is available, presymptomatic diagnosis in children is not advised except in rare families where early-onset disease is typical. Presymp-tomatic diagnosis is recommended when a family is planned and when early management of affected patients would be altered. The mainstay of screening is ultrasonography; diagnostic echographic criteria according to age in PKD1 families are depicted in Figure 9-28, and diagnosis by gene linkage in Figure 9-29.

0 0

Post a comment