Welcome to UAB RPKDCC !

Hepato/Renal Fibrocystic Diseases Translational Resource

 

The University of Alabama at Birmingham Hepato/Renal Fibrocystic Diseases Core Center (UAB HRFDCC) has established a NIDDK-funded, interdisciplinary center of excellence in PKD-related research, with specific emphasis on recessive PKD. Among the four Cores, the UAB HRFDCC includes the Core A: Hepato/Renal Fibrocystic Diseases Translational Resource, a Core resource designed to develop a unique set of clinical, genetic, and educational resources for autosomal recessive polycystic kidney disease (ARPKD) and other recessive forms of renal cystic diseases. Click here for a printable brochure of the Core A: Hepato/Renal Fibrocystic Diseases Translational Resource.

The Core has three primary objectives:

  1. Establish a national tissue repository for hepato/renal fibrocystic diseases.

    ARPKD Clinical Database
    Patient/family information and consent
    Physician access (password protected)

     

     



  2. Expand the Clinical and Mutational Database established in our previous P30-funded Core Center to include patients with ARPKD and other hepato/renal fibrocystic diseases and establish a DNA Bank.

               HRFD Mutational Database (
    Authorized medical personnel) 

  3. Broaden the portfolio of educational information and tools to encompass the hepato/renal fibrocystic disease spectrum of disorders, particularly ARPKD.

       a. Downloadable presentations in html or pdf format (need Adobe Acrobat Reader - free download)
            
              1. ARPKD Basics      ---      ARPKD HTML version   or   ARPKD PDF version                
              2. ARPKD - Renal Replacement Therapy (Dialysis and Transplantation)      ---      ARPKD HTML version   or   ARPKD PDF version                
              3. ARPKD Liver Disease      ---      ARPKD HTML  version   or   ARPKD PDF version        
              4. ARPKD Nutrition in Chronic Kidney Disease      ---      ARPKD HTML  version   or   ARPKD PDF version        
              5. ARPKD Research Update 2009      ---      ARPKD HTML version   or   ARPKD PDF version         

       b. ARPKD Symposium (IPNA Congress August 2010)

              1. Schedule      ---      ARPKD PDF version                
              2. Introduction and Overview      ---      ARPKD PDF version                
              3. Oligohydramnios and pulmonary hypoplasia: clinical management of a developmental disorder      ---      ARPKD PDF version         
              4. PKHD1 genetics: implications for clinical diagnosis and management      ---      ARPKD PDF version                
              5. Renal disease progression in ARPKD: clinical management      ---      ARPKD PDF version                
              6. Biliary disease progression in ARPKD: clinical management      ---      ARPKD PDF version                
              7. Families' Persepctive - Experience of Mothers of Children with ARPKD      ---      ARPKD PDF version                
              8. PKD Progress      ---      ARPKD PDF version                

       c. PubMed links to recent key ARPKD-related reports

       d. A multi-media educational resource called "Autosomal Recessive Polycystic Kidney Disease (ARPKD): What every family should know"

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

Other major publicly available sources for information about ARPKD
 

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