Kidney Week

Abstract: FR-PO0094

Quantitative MRI Biomarkers of ARPKD

Session Information

• ADPKD and Cystic Kidney Disease - 2
  October 23, 2026 | Location: Exhibit Hall A, Convention Center
  Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

• 1201 Genetic Diseases of the Kidneys: Cystic (Monogenic)

Authors

• Smothers, Jacob B., Case Western Reserve University Department of Biomedical Engineering, Cleveland, Ohio, United States

Jacob B. Smothers

• Kavran, Michael, Department of Radiology, University Hospitals-Cleveland Medical Center, Case Western Reserve University, Cleveland, Ohio, United States

Michael Kavran, MS

• MacAskill, Christina J., Case Western Reserve University Department of Biomedical Engineering, Cleveland, Ohio, United States

Christina J. MacAskill

• Kretzler, Madison E., Department of Radiology, University Hospitals-Cleveland Medical Center, Case Western Reserve University, Cleveland, Ohio, United States

Madison E. Kretzler, PhD

• Howarth, Kate, Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States

Kate Howarth

• Gange, Victoria, Section of Pediatric Nephrology and Hypertension, Cleveland Clinic Children's, Cleveland, Ohio, United States

Victoria Gange

• Serai, Suraj D., Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States

Suraj D. Serai

• Hartung, Erum Aftab, Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States

Erum Aftab Hartung, MD, MS

• Flask, Chris, Case Western Reserve University Department of Biomedical Engineering, Cleveland, Ohio, United States

Chris Flask, PhD

• Dell, Katherine MacRae, Section of Pediatric Nephrology and Hypertension, Cleveland Clinic Children's, Cleveland, Ohio, United States

Katherine MacRae Dell, MD

Background

Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disease affecting ≈1/20,000 live births and resulting in significant morbidity and mortality. There are no available therapies, despite encouraging preclinical studies. Clinical trials in ARPKD patients have been limited by the lack of effective methods to identify high risk patients or to assess efficacy. In this multi-center study, we evaluated 3 quantitative MRI methods to assess key features of ARPKD kidney disease: 1) cystic burden (Magnetic Resonance Fingerprinting, MRF-based T₁/T₂); 2) perfusion (Arterial Spin Labeling, ASL); and 3) stiffness (MR Elastography, MRE).

Methods

We acquired kidney MRF, ASL, and MRE data for 27 ARPKD patients ages 6-40 yrs with chronic kidney disease (CKD) stages 1 (n=6), 2 (n=8), and 3 (n=13) and 6 age-matched healthy controls ages 8-24 yrs recruited from our 2 Children’s Hospitals. CKD stage was determined using the CKID U25 creatinine+cystatin C estimated glomerular filtration rate formula. A region-of-interest analysis was performed to determine mean kidney T₁, T₂, perfusion, and stiffness. Groupwise statistical comparisons were performed using 2-tailed Mann-Whitney U-tests (significance=p<0.05).

Results

ARPKD patients at all 3 CKD stages showed significantly increased mean kidney T₁ and T₂ values (milliseconds) vs. controls (p<0.003): stage 1: T₁=1960±335, T₂=87±10; stage 2: T₁=2255±328, T₂=97±20; stage 3: T₁=2293±249, T₂=99±11; controls: T₁=1548±62, T₂=68±4. Significant increases in mean T₁ and/or T₂ values were also found between ARPKD patients with CKD stages 1 vs. 2 (T₁, p=0.043) and those with stages 1 vs. 3 (T₁ and T₂, p=0.022). Perfusion (mL/min/100g of tissue) was also significantly reduced (p<0.03) for ARPKD patients vs. controls: stage 1=61±20; stage 2=73±39; stage 3=245±120, controls=102±46. ARPKD patients with CKD stages 3 vs. 2 also had significantly increased kidney stiffness (kPa; 4.0±0.5 vs.3.4±0.7, p=0.022).

Conclusion

These cross-sectional kidney MRI results show that measures of cystic burden, perfusion and/or stiffness can differentiate ARPKD patients with CKD stages 1-3, including those with earlier disease (CKD stage 1 vs. 2) and distinguish ARPKD vs. healthy control kidneys. These findings suggest the potential for these MRI biomarkers to serve as safe, effective methods to stage and monitor ARPKD kidney disease in eventual clinical trials.

Funding

• NIDDK Support – Siemens Healthineers