ARPKD Resources

Explore patient and physician resources, consider advancing research by participating in a clinical study, learn more about the PKD Foundation’s investment in ARPKD research, and mark your calendar for national awareness events.

ARPKD Resources

ARPKD Patient Handbook

This handbook provides information about autosomal recessive polycystic kidney disease (ARPKD) and congenital hepatic fibrosis (CHF). It will be useful to children and families who have been diagnosed with ARPKD/CHF, as well as family members, caregivers, and health professionals. It is not intended for those with autosomal dominant polycystic kidney disease (ADPKD).

Parents Chapter

The PKD Parents Chapter has been serving parents of children with ARPKD and ADPKD since 2000. The PKD Parents Chapter offers support, compassion, and guidance, and helps connect families with experts and other local PKD families.

Watch ARPKD sessions from this year’s virtual PKDCON

ARPKD Clinical Studies

ARPKD and ARPKD-Related Diseases Database

The University of Alabama at Birmingham Hepato/Renal Fibrocystic Disease Core Center (UAB HRFDCC) has developed a unique set of clinical, genetic, and educational resources for ARPKD and other recessive forms of renal cystic disease. 

If your child has PKD, consider sharing your experience and helping advance research. Children’s National researchers have partnered with other PKD researchers globally to better understand pediatric PKD. No travel to a clinic is needed to participate.

Novel Imaging in ARPKD

Researchers at the Children’s Hospital of Pennsylvania are developing new ultrasound and magnetic resonance imaging (MRI) methods to measure kidney and liver disease severity in ARPKD. Participants in this study will include individuals with ARPKD, and a comparison group of healthy individuals without liver or kidney disease. Individuals of any age may take part in the study.

Novel MRI Techniques to Evaluate ARPKD Kidney and Liver Disease Progression

This study is being done to better understand how certain MRI techniques can be applied to measuring disease progression in ARPKD patients. There will be three study visits over the course of approximately two years.

ACT Alert

Get notified of studies in your area.

Investment in ARPKD Research

PKDF has invested over $2 million since 2006 for research, support, education and awareness for ARPKD, ADPKD in children, and congenital hepatic fibrosis (CHF), a disease closely associated with ARPKD. The Foundation also strives to provide support through funding and collaborations in the following ways:

Dedicated ARPKD research funding

 

Over the past five years, PKDF has awarded biennial research grants (transitioned to annual as of 2019) to outstanding PKD researchers to increase understanding of the genetic and pathological processes involved in PKD.

Although the results of all PKDF-funded scientific projects may ultimately benefit and contribute to discoveries in PKD in children, you can read more about projects related to ARPKD here.

2021 Grants Supporting ARPKD research

  • Erum Aftab Hartung, M.D., MTR, is a pediatric nephrologist at the Children’s Hospital of Philadelphia (CHOP). Her project is focused on intracranial aneurysms and vascular abnormalities in ARPKD.
  • Professor Melissa Little, BSc PhD GAICD, FAAHMS, FAAS is the Theme Director of Cell Biology at the Murdoch Children’s Research Institute in Melbourne, Australia. Her project is focused on in vitro modelling of ARPKD.

Walk with us in October and raise money for ARPKD Research.

Honoring the memory of ARPKD Warrior Emma Grace Hutchinson, this event raises money for ARPKD research.

Representation in PKDF Scientific Advisory Committee

Made up of 14 prestigious PKD physicians and scientists, the Scientific Advisory Panel (SAP) oversees our research and medical programs aimed at discovering and delivering treatments for PKD. The SAP meets throughout the year to discuss relevant medical issues, provide guidance to our staff, and review and approve research applications for grants and fellowships in the field of PKD science. All our materials and publications are approved by SAP members, who possess the highest level of experience and knowledge in PKD clinical and scientific work.

One current member in particular is a champion in the pediatric PKD space: 

Erum Aftab Hartung, MD, MTR, is a pediatric nephrologist at the Children’s Hospital of Philadelphia (CHOP). Her research interests include ARPKD, development of imaging biomarkers of kidney and liver disease, and neurocognitive outcomes in children with chronic kidney disease. She currently serves as chair of the Research Committee of the American Society of Pediatric Nephrology, and is the Associate Program Director for the pediatric nephrology fellowship at CHOP. Dr. Hartung’s research is funded by grants from the National Institute of Diabetes and Digestive and Kidney Diseases (National Institutes of Health) and the University of Pennsylvania. Dr. Hartung is on the faculty of the Perelman School of Medicine at Penn as Assistant Professor of Pediatrics. She lives in Swarthmore, PA with her husband and two children. 

ARPKD Task Force

The ARPKD Task Force was formed by the PKD Foundation Board of Directors and includes ARPKD physician scientists, parents of children with ARPKD, and executive staff members. Established to guide the Foundation’s efforts to address the important and unmet needs of the ARPKD community, the ARPKD Task Force will design a comprehensive strategy including research programming, a communication plan, and an advancement campaign with the goal of improving outcomes for ARPKD families.

Supported Scientific Meetings

2021 PKD Regulatory Summit
May 19–20, 2021 (virtual)

View session recordings here.

PKD in Children Conference
May 3–5, 2019 in Chicago, IL
April 21–23, 2017 in New York City
April 5–7, 2013 in New York City
PKD Research Conference
June 29 – July 1, 2018 in Kansas City, MO
FASEB — PKD: Challenges, Differing Viewpoints and Ways Forward
June 25–30, 2017 in Big Sky, MT
American Society of Pediatric Nephrology
April 30 – May 3, 2016 in Baltimore, MD

2021 Awareness Events

Follow the PKD Foundation on Facebook, Twitter, Instagram, and LinkedIn for event updates and download and share our PKD in Children handout.

February

14 | National Donor Day

28 | Rare Disease Day

March

National Kidney Month

11 | World Kidney Day

April

National Donate Life Month

16 | Blue & Green Day

18 – 24 | National Pediatric Transplant Week

September

4 | PKD Awareness Day

August

National Minority Donor Awareness Month

October

15 | National Pregnancy & Infant Loss Remembrance Day

November

National Family Caregivers Month

Page last reviewed June 2021