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

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:

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

ARPKD Clinical Database
Patient/family information and consent Information (PDF Downloadable) Consent form and Assent form (children 7-13 yo) (PDF Downloadable) English Version Spanish Version Portuguese Version French Version Contact Information Release of Information (PDF Downloadable)	Physician access (password protected) Information (PDF Downloadable) Instructions for Data Entry (PDF Downloadable) Physician

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)

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 --- or
	2. ARPKD - Renal Replacement Therapy (Dialysis and Transplantation) --- or
	3. ARPKD Liver Disease --- or
	4. ARPKD Nutrition in Chronic Kidney Disease --- or
	5. ARPKD Research Update 2009 --- or

b. ARPKD Symposium (IPNA Congress August 2010)

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

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