Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic Diseases.

ABSTRACT: Autosomal recessive polycystic kidney disease (ARPKD) and other hepatorenal fibrocystic diseases (HRFD) are relatively rare recessive disorders that constitute an important set of childhood nephropathies. Little is known about fundamental pathogenesis, and advances toward clinical trials will require well-characterized patient cohorts and the development of predictive and prognostic biomarkers. Such studies in rare diseases require greater collaboration than the efforts in common diseases where large patient repositories can be built at a single site. For the HRFD, clinical and translational research studies would be well served by centralized case accrual that coordinates collection of clinical data, biospecimens (DNA and tissues), and genetic information. As a part of the NIH-funded Hepa

SUBMITTER: Alzarka B 

PROVIDER: S-EPMC5397503 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature