The incidence of consecutive manifestations in Von Hippel-Lindau disease.

ABSTRACT: Von Hippel-Lindau (VHL) disease is an autosomal dominant rare tumor syndrome characterized by high penetrance. VHL mutation carriers develop numerous manifestations in multiple organs during life. The natural course of development of new and growth of existing VHL-related manifestations is still unclear. In this study we aimed to gain insight into the development of subsequent manifestations in VHL disease. We retrospectively scored each new VHL-related manifestation as detected by standard follow-up (retina, central nervous system, kidneys and pancreas, excluding adrenal and endolymfatic sac manifestations) in 75 VHL mutation carriers. The Kaplan-Meier method was used to plot the cumulative proportions of all consecutive manifestations in each organ against age. The cumulative average num

SUBMITTER: van der Horst-Schrivers ANA 

PROVIDER: S-EPMC6560011 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature