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UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource

In 2005, The University of Alabama at Birmingham established a NIDDK-funded, interdisciplinary center of excellence in PKD-related research, with specific emphasis on recessive PKD. In the previous Core Center award period, we developed a Core Resource to capture clinical and mutational data for ARPKD patients (“Core A: ARPKD Clinical and Genetic Resource”, NCT00575705). However, studies in the last several years have demonstrated that ARPKD and other single gene disorders characterized by renal cystic disease and extra-renal phenotypes share numerous pathogenic features. In the current competitively- renewed Center, we have expanded this Core resource to include other hepato/renal fibrocystic diseases.

Participation criteria:

Inclusion criteria:

  • Demonstration of hepato/renal fibrocystic disease by clinical information, imaging studies, biopsy, autopsy, or genetic testing.

Exclusion criteria:

  • ADPKD Urinary tract malformations Major congenital anomalies of other systems

Contact information:

Elena Gibson, RN (GER)
202-476-2922
egibson@childrensnational.org

Lisa M Guay-Woodford, MD
202-476-6439
LGuaywoo@childrensnational.org