Welcome to UAB RPKDCC !

Autosomal Recessive Polycystic Kidney Disease (ARPKD) Clinical and Genetic Resource

 

The University of Alabama at Birmingham Recessive Polycystic Kidney Disease Core Center (UAB RPKDCC) has established a NIDDK-funded, interdisciplinary center of excellence in PKD-related research, with specific emphasis on recessive PKD. Among the five Cores, the UAB RPKDCC includes the ARPKD Clinical and Genetic Resource, a Core resource designed to develop a unique set of clinical, genetic, and educational resources for ARPKD. Click here for a printable brochure of the ARPKD Clinical and Genetic Resource.

The Core has three primary objectives:

  1. Establish a comprehensive Clinical Database that includes information from all patients who meet the inclusion criteria for ARPKD.
    ARPKD Clinical Database
    Patient/family information and consent
    		 Physician access (password protected)

     

     


  2. Establish a Mutational Database which will be capable of linking clinical and mutational information in a searchable format to facilitate genetic analyses (e.g. genotype-phenotype correlations, modifier gene studies), translational studies, and clinical trials.

               ARPKD Mutational Database (    Authorized medical personnel) 

  3. Create a multi-media, web-based resource to provide a reliable, comprehensive informational resource for ARPKD families, their physicians, and genetic counselors.

      a. Downloadable presentations in html or pdf format (need Adobe Acrobat Reader - free download)
            
              • ARPKD Basics      ---      ARPKD HTML version   or   ARPKD PDF version                
              • ARPKD Liver Disease      ---      ARPKD HTML version   or   ARPKD PDF version        
              • ARPKD - Renal Replacement Therapy (Dialysis and Transplantation)   ---   ARPKD HTML version   or   ARPKD PDF version
              • ARPKD Research Update 2006      ---      ARPKD HTML version   or   ARPKD PDF version         
            
       b. PubMed links to recent key ARPKD-related reports

       c. A multi-media educational resource called "Understanding ARPKD"

Genetic Testing for ARPKD --- UAB Medical Genomics Diagnostic Lab

Other major publicly available sources for information about ARPKD
 

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Last Updated 11/25/2008