Abstract: TH-PO476
Early PKD Observational Cohort (EPOC) Study: Advancing Early Detection of Polycystic Kidney Disease
Session Information
- Cystic Kidney Diseases: Clinical Assessment and Therapeutic Directions
October 24, 2024 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1201 Genetic Diseases of the Kidneys: Cystic
Authors
- Rao, Vinamratha, The University of Kansas Medical Center, Kansas City, Kansas, United States
- Creed, Catherine, The University of Kansas Medical Center, Kansas City, Kansas, United States
- Lepping, Rebecca J., The University of Kansas Medical Center, Kansas City, Kansas, United States
- Chapman, Arlene B., University of Chicago Division of the Biological Sciences, Chicago, Illinois, United States
- Wallace, Darren P., The University of Kansas Medical Center, Kansas City, Kansas, United States
- Mustafa, Reem, The University of Kansas Medical Center, Kansas City, Kansas, United States
- Yu, Alan S.L., The University of Kansas Medical Center, Kansas City, Kansas, United States
Background
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease, often leading to renal failure. Early intervention, especially in children, is hindered by the lack of reliable biomarkers to detect and monitor early cyst growth. Longitudinal data, biospecimens and imaging from children and young adults are needed to address this gap.
Methods
EPOC is an observational longitudinal study of individuals aged 4-35 with an eGFR>80ml/min per 1.73m2. Individuals with ADPKD, siblings known to be unaffected and those with uncertain diagnosis ("at-risk" siblings), and healthy unaffected volunteers, were recruited from the University of Kansas,University of Chicago and Children’s Mercy Hospital Kansas City. Clinical history, vital signs, serum chemistry, and urine protein were collected at baseline and annually up to 5 years. Urine, urinary exosomes, plasma, sera and DNA are stored in a biorepository. For ADPKD participants, abdominal MRI scans were performed at baseline and every 2 years to measure height-adjusted total kidney volume(HtTKV).
Results
The EPOC study enrolled 51 healthy controls, 112 individuals with ADPKD, 7 unaffected siblings, and 21 at-risk siblings, with a balanced gender distribution of 56% females. The cohort was predominantly White (80%), with 10% Asian, 8% Black or African American, 1% Native Hawaiian/Pacific Islander, and 6% Hispanic or Latino ethnicity. The median age was 22.2 years (range:4.1-34.7). 82% of those with ADPKD had family history of the disease. Of the 102 genotyped individuals, 88% had PKD1 mutations, 9% PKD2, 2% IFT140, and 1% had both PKD1 and PKD2 mutations. The median baseline HtTKV was 365.6 ml/m (IQR: 267-528.7 ml/m, N=98), with Mayo Imaging Classifications of 10.2% (Class 1A), 22.4% (Class 1B), 26.5% (Class 1C), 20.4% (Class 1D), and 20.4% (Class 1E). Common baseline complications in the ADPKD group included hypertension (39%), flank pain (37%), and urinary tract infection (28%).
Conclusion
We have recruited a cohort of children and young adults with very early ADPKD. This biorepository is uniquely poised to facilitate discovery of novel biomarkers and prognostic models in pediatric ADPKD. The inclusion of unaffected controls and at-risk siblings is novel, providing critical comparative data for understanding early-stage disease.
Funding
- NIDDK Support