Introducing the Unknown Causes of Kidney Disease Roadmap

View the slides from the panel discussion

A variety of health and environmental conditions can lead to kidney disease and, in some cases, kidney failure. Identifying the root cause of patients’ kidney disease, both early in the disease and as a life-preserving necessity, is important for making crucial treatment decisions. 

As a champion of people living with kidney disease, the American Kidney Fund (AKF) has long been engaged with stakeholders across the healthcare sector and utilizing these relationships to identify both the barriers that this patient population faces in seeking a diagnosis and the challenges that not having a clear diagnosis cause in patients’ lives. AKF’s Unknown Causes of Kidney Disease Project seeks to improve understanding of how undiagnosed or misdiagnosed causes of kidney disease directly impact patient care and outcomes.

AKF held the Unknown Causes of Kidney Disease Summit in December 2020, bringing together medical leaders, patient advocates, and academic and industry researchers, to identify how the kidney community can drive innovation in research, diagnosis and treatment of the underlying causes of kidney disease. These leading experts reviewed the research on the subject, heard directly from affected patients, identified barriers to progress, and developed a plan for a path forward to address this serious issue in nephrology.

After refining the key takeaways from the Summit, AKF developed a roadmap to present a path forward for improving the diagnosis of the causes of kidney disease and kidney failure. Overcoming barriers to identifying the root cause of kidney disease for currently unknown reasons, will not be accomplished quickly. However, thoughtful, dedicated collaboration among the kidney care community can result in steady progress toward expanding access to genetic testing, reducing systemic inequalities, engaging providers, and empowering patients. The solutions that AKF outlines in this roadmap, based on expert input from the Summit, and supported by educational resources and best practices for patient-provider communication, can help reduce the number of patients unaware of the origins of their kidney disease.

Download our Unknown Causes of Kidney Disease Project roadmap

Next Steps

AKF is committed to seeing these changes through and has already assembled three implementation groups made up of patient advocates, rare disease organizations, kidney advocacy organizations and leading medical professionals.

Each group will focus on a particular area, one on public policy, one on patient and caregiver empowerment, and healthcare professional awareness and education.

The public policy group will be focusing on ensuring equitable insurance coverage for patients seeking an accurate diagnosis, the patient and caregiver group will be focused on creating tools to empower patients to work effectively with their providers and the healthcare professional awareness and education group will be working to address knowledge gaps identified through the Summit and other methods.

More information on these groups and their work will be released in the coming weeks and months.

A Patient Perspective: Shayla

Shayla, a former Division I athlete and seemingly healthy young adult, was referred to a nephrologist after severely swollen feet led her doctor to conduct bloodwork. After additional testing, the nephrologist told Shayla that she would need a kidney transplant or dialysis to survive. Shayla was incredibly fortunate to receive a transplant from her twin sister, Ivy, 10 years ago. Now married and the mother of two young boys, Shayla is participating in research led by Dr. Martin Pollak, investigating genetic markers of kidney disease. She hopes to discover whether her kidney failure has genetic origins so that her sons can live healthier lives.

Leadership Sponsors

Champion Sponsors

Summit Steering Committee:

David Baron, Ph.D.
PKD Science Consultant
Former Chief Scientific Officer, PKD Foundation

Ali Gharavi, M.D.
Chief, Division of Nephrology
Member, Institute for Genomic Medicine
New York-Presbyterian/ Columbia University Medical Center

Kevin Ho, M.D.
Medical Director, US Medical Affairs- Rare Diseases
Sanofi Genzyme

Jack Johnson
Executive Director and Co-Founder
Fabry Support and Information Group

Anna Köttgen, M.D., MPH
Director, Institute of Genetic Epidemiology
University of Freiburg, Germany

Trudy McKanna, M.S.
Director, Medical Education- Transplant and Renal Genetics
Natera

Silas Norman, M.D., MPH
Associate Professor, University of Michigan Division of Nephrology
Vice Chair of Medical Affairs Committee, American Kidney Fund

Julie Wright Nunes, M.D., MPH
Associate Professor, University of Michigan Department of Internal Medicine
Chair of Medical Affairs Committee, American Kidney Fund


Summit Presenters:

Dr. Ali Gharavi
Chief, Division of Nephrology
Member, Institute for Genomic Medicine
New York-Presbyterian/ Columbia University Medical Center

Dr. Martin Pollak
Chief, Division of Nephrology and Director, Pollak Lab
Beth Israel Deaconess Medical Center


Patient/Caregiver Advocates:

Theresa Caldron
Amanda Goldstein
Shayla Harris
Deanna Nicole Hunt
Paul Rakoski


Summit Participants:

Alexion Pharmaceuticals, Inc.
John Viel, PhD- Senior Medical Director, Nephrology

Alport Syndrome Foundation
Kevin Schnurr- Dir. of Communications and Patient Engagement

American Association of Kidney Patients
Richard Knight- President

American Nephrology Nurses Association
Debra Hain, PhD APRN AGPCNP-BC FAAN FAANP FNKF- Fellow

American Society of Nephrology
Susan Stark- Acting VP, Excellence in Patient Care
Ronald Falk, MD, FASN- Past President

Atypical HUS Foundation
David Deffenbaugh- Executive Director

Centers for Medicare & Medicaid Services
Jesse Roach, MD- Nephrologist, Medical Officer, Center for Clinical Standards and Quality

Chi Eta Phi Sorority, Inc.
Angela Jourdain, Dr. PH., MSN, RN, CCRN, NEA-BC - Past President
Stacey Johnson, DNP, MSN, BSN, RN, CCM- Assistant Regional Director

Dialysis Patient Citizens
Kathi Niccum, EdD- Education Director

IgA Nephropathy Foundation of America, Inc.
Bonnie Schneider- Founder and Director

ICAHN School of Medicine at Mount Sinai
Paolo Cravedi, MD, PhD- Principal Investigator, the TANGO Study, Cravedi Laboratory

International Society of Nephrology
Shuchi Anand, MD, MS- Board Member, Director of the Center for Tubulointerstitial Kidney Disease at Stanford University

Kidney Disease: Improving Global Outcomes (KDIGO)
John Davis- CEO

National Institute of Diabetes, Digestive and Kidney Diseases
Ivonne Schulman, MD- Program Director, Division of Kidney, Urologic and Hematologic Diseases

National Kidney Foundation
Jennifer St. Clair Russell, PhD, MSEd, MCHES- Sr. VP Education and Programs

National Medical Association
Oliver Brooks, MD- Immediate Past President

National Minority Organ Transplant Education Program (MOTTEP)
Clive Callender, MD- President and Founder

National Organization for Rare Disorders (NORD)
Alicia Lawrence, LMSW- Patient Services Case Manager

National Society of Genetic Counselors
Gillian Hooker, PhD, ScM- President

NephCure Kidney International
Kristen Hood, MSN, RN- Director Clinical Outreach

Otsuka America Pharmaceutical, Inc.
Charlotte Jones-Burton, MD, MS- VP, Global Clinical Development, Nephrology

Oxalosis & Hyperoxaluria Foundation
Kim Hollander- Executive Director

Polycystic Kidney Disease Foundation
Chris Rusconi, PhD- Chief Research Officer

Renal Pathology Society
Jeffrey Hodgin, MD, PhD- Board of Advisors

Renal Physicians Association
Amy Beckrich, CAE- Project Director

U.S. Veterans Affairs
Susan Crowley, MD, MBA, FASN- National Program Director for Kidney Disease and Dialysis
Deborah Hartzfeld- Lead Genetic Counselor, Genomic Medicine Service

University of Michigan
Alan Leichtman, MD- Professor Emeritus, Department of Medicine, Division of Nephrology

University of Michigan Medical School
Laura Heyns Mariani, MD- NEPTUNE Nephrotic Syndrome Study Network
Assistant Professor, Internal Medicine/Nephrology

Vertex Pharmaceuticals, Inc.
Ogo Egbuna, MD- Sr. Medical Director