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

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.

The Core has three primary objectives:

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 Information (PDF Downloadable) Consent Form (PDF Downloadable) Contact Information	Physician access (password protected) Information (PDF Downloadable) Physician

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)

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 --- or
	• ARPKD Liver Disease --- or
	• ARPKD - Renal Replacement Therapy (Dialysis and Transplantation) --- or
	• ARPKD Research Update 2006 --- or

   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