In 2019, Valerie noticed a decline in her kidney function during a routine visit to her primary care physician. Repeated tests offered no answers, so she carried on with her life.
Sharon McGroder, Ph.D.
Executive Director, Rare Kidney Disease Foundation
Lisa Parcell
Deputy Director, Rare Kidney Disease Foundation
Richard Nelson
President, Rare Kidney Disease Foundation
Anthony J. Bleyer, Sr.
M.D., M.S., Wake Forest University School of Medicine
By 2022, Valerie’s kidney function had sharply declined. A nephrologist diagnosed severe anemia and borderline hypertension, prescribed medication, and scheduled a six-month follow-up. At that visit, he recommended a kidney biopsy, saying, “It’s the only way to know what’s causing your kidney disease.”
Wary of the procedure due to a bleeding condition, Valerie hesitated. She was curious about genetic testing, but since her nephrologist never mentioned it, she didn’t ask.
When severe fatigue set in during summer 2024, Valerie sought a second opinion. After reviewing her history and family kidney disease, the new nephrologist recommended genetic testing.
Six years and $20,000 later, Valerie was diagnosed with a rare genetic kidney disease: autosomal dominant tubulointerstitial kidney disease (ADTKD).
“I could have been genetically tested and known much earlier, saving time, money, and a whole lot of frustration!” Valerie said.
What is ADTKD?
ADTKD is a chronic kidney disease caused by genetic mutations that produce abnormal proteins, damaging the kidneys’ tubulointerstitium and leading to progressive loss of kidney function, ultimately requiring dialysis or transplant.
Key features include:
- Autosomal dominant inheritance: Affected individuals have a 50% chance of passing it to each child.
- Bland urinary sediment: Since it affects the tubulointerstitium and not the glomerulus, urine usually has no blood or protein.
- Variable progression: Age of onset and decline rate differ, even within the same family. Some reach end-stage kidney disease in their 20s, others in their 70s or 80s.
Treatment and research
There is currently no treatment for ADTKD. However, research originating in Dr. Anna Greka’s lab at the Broad Institute at MIT and Harvard has helped identify a promising therapy, with plans for a clinical trial in the near future.
Prevalence
ADTKD is underdiagnosed due to limited awareness. Some researchers estimate that over 1 million chronic kidney disease patients worldwide have ADTKD, including 75,000-100,000 patients in the United States, making it the second most common genetic kidney disease in the nation, after polycystic kidney disease.
The Rare Kidney Disease Foundation
The Rare Kidney Disease Foundation (RKDF) is committed to halting the devastating impacts of ADTKD across generations by:
- Raising awareness about ADTKD, the importance of genetic testing, and potential treatments on the horizon.
- Encouraging patients with symptoms to seek a genetic diagnosis and join the International ADTKD Registry at Wake Forest University School of Medicine.
- Providing a supportive community of patients, families, nephrologists, and researchers.
All RKDF members are volunteers and either have ADTKD or have an affected family member, giving us a firsthand understanding of the urgency for a treatment, for ourselves, our children, and future generations.
Genetic testing is essential
For patients like Valerie, the road to diagnosis can be long and expensive. Advances in research, upcoming clinical trials, and a growing network of support make this a critical time to recognize the power of genetic testing in chronic kidney disease. Awareness saves time. Diagnosis changes lives. Together, we can transform the future of ADTKD for generations to come.
For more information or to join our supportive community, contact RKDF at https://rarekidney.org/contact-us
