The University of Alabama at Birmingham Hepato/Renal Fibrocystic Disease Core Center (UAB HRFDCC) has established a NIDDK-funded interdisciplinary center of excellence in PKD-related research, with specific emphasis on ARPKD. Among the four cores, the UAB HRFDCC includes the Core A: Hepato/Renal Fibrocystic Disease 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 disease.
Summary of the Core A Translational Resource (PDF)
IMPORTANT: If PDF forms download doesn't work, please call Ms. Elena Gibson at 202-476-6877 or Email at firstname.lastname@example.org
Core A Clinical Database:
Frequently Asked Questions (PDF) (English • Spanish • French • Portuguese)
If you are the parent of a child with ARPKD and you would like to enroll your child in the study, please take the following steps:
- Complete and sign the Consent Form (PDF) (English • Spanish • French • Portuguese) (if the patient is under 12) & Assent Form (PDF) (English • Spanish • French • Portuguese) (if the patient is between 12-17)
- Complete and sign the Release of Medical Information Authorization (PDF)
- Please provide us with the contact information for both you and your child's/your physician here (online form)
- Submit the first two forms via email to Ms. Elena Gibson (email@example.com). She will confirm participation. If you have questions about any of the above, please reach out to Ms. Gibson by calling 202-476-2197.
Resource for physicians seeking to learn more about the study:
Study Information/Frequently Asked Questions (PDF) (English • Spanish • French • Portuguese)
Core A Tissue Resource
Core A has partnered with the University of Alabama at Birmingham (UAB) Tissue Procurement Resource to develop a companion Tissue Repository for ARPKD and other hepato-renal fibrocystic diseases.
For patients/families interested in contributing tissues to this Core A Tissue Resource, please contact Elena Gibson (firstname.lastname@example.org • 202-476-6877). She will answer general questions; arrange to have a mailer with all the tissue sample collection materials and instructions sent to your physicians; as well as provide contact information for the UAB Tissue Procurement Resource.
Please note: this tissue collection effort is related to, but independent of, the Core A Clinical Database and participation in one does not obligate participation in the other. Core A is facilitating access to this additional resource. The consenting process will use the UAB Informed Consent/Assent forms and be handled by the UAB Tissue Procurement personnel.
- INSTRUCTIONS: Human Tissue Sample Collection (PDF)
- Please provide us with information about the patient and the site that is shipping tissue samples (online form)
Core A has partnered with Dr. Nicholas Katsanis at Duke University to perform genetic studies to identify disease-causing mutations in patients with ARPKD and other hepato-renal fibrocystic diseases. These studies require DNA samples from patients and their parents.
For patients/families interested in participating in these genetic studies, please contact Elena Gibson (email@example.com • 202-476-6877). She will discuss with you the consent process for collecting blood samples to obtain DNA. Ms. Tran will send a mailer with a blood collection kit to your physician. In addition, we will collect your contact information using the online survey and with your permission, we will provide this information to the Duke Study team.
Please note: these genetic studies are related to, but independent of, the Core A Clinical Database and participation in one does not obligate participation in the other. Core A is facilitating access to this additional resource. The consenting process for the genetic studies will use the Duke Informed Consent/Assent forms and be handled by the Duke Study personnel.
- Complete and sign the Consent Form (PDF) (if the patient is under 12) and Assent Form (PDF) (if the patient is between 12-17)
- INSTRUCTIONS: Blood Sample Collection (PDF)
- Please provide us with the contact information for the patient, the parents, and the physician who you want to collect the blood samples (online form)
Resources and Links for Parents
· PKD in Children - Basics (PDF)
· Dialysis and Transplantation (PDF)
· Dialysis and Transplantation in Teens (PDF)
· ARPKD Liver Disease (PDF)
· ARPKD Liver Disease 2014 (PDF)
· ARPKD Perinatal Issues (PDF)
· Nutrition in Chronic Kidney Disease (PDF)
· Transitioning Care in Chronic Disease (PDF)
Autosomal Recessive Polycystic Kidney Disease (ARPKD): What Every Family Should Know (video)
ARPKD Consensus Report
Consensus Expert Recommendations for the Diagnosis and Management of Autosomal Recessive Polycystic Kidney Disease: Report of an International Conference. Journal of Pediatrics, July 2014 (pdf)
Other Major Publicly Available ARPKD Resources
The Polycystic Kidney Disease Foundation
- The ARPKD/CHF Alliance
- Online Mendelian Inheritance in Man
- Message board for anyone who is affected by ARPKD
- Message board for people who have lost a child to ARPKD