Related Experiment Video
Updated: Apr 14, 2026
Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
Published on: June 23, 2015
Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant
Kubra Yilmaz1, Seha Saygili2, Nur Canpolat2
1Department of Pediatrics, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Türkiye.
Insights
Magnetic resonance imaging (MRI) identified higher kidney volumes in children with autosomal dominant polycystic kidney disease (ADPKD), correlating with increased risk. This imaging approach aids in stratifying pediatric ADPKD patients for better risk assessment and management.
Area of Science:
- Pediatric Nephrology
- Medical Imaging
- Genetics
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) in children often presents with normal kidney function despite structural damage.
- Early intervention and predictive markers are crucial for managing pediatric ADPKD.
- Kidney volume is inversely related to kidney function, making it a potential risk assessment tool.
Purpose of the Study:
- To utilize magnetic resonance imaging (MRI)-based kidney volume assessment for risk stratification in pediatric ADPKD patients.
- To investigate clinical and genetic differences among various risk groups identified by MRI.
- To establish a link between kidney volume, genetic mutations, and clinical outcomes in pediatric ADPKD.
Main Methods:
- A multicenter, cross-sectional, case-control study involving 75 pediatric ADPKD patients (5-18 years) and 27 controls.
- Kidney function assessed by estimated glomerular filtration rate (eGFR) using the CKiD-U25 equation.
- Kidney volume measured via MRI and adjusted for height (htTKV), with patients stratified using the Leuven Imaging Classification (LIC).
Main Results:
- Patients with ADPKD showed significantly higher htTKV compared to controls (141 vs. 117 ml/m, p=0.0003).
- The Leuven Imaging Classification (LIC) stratified patients into Classes A (38.7%), B (28%), C (24%), and D+E (9.3%).
- Higher risk groups (Class D+E) exhibited significantly higher blood pressure and a higher prevalence of hypertension, with a strong association with PKD1 mutations.
Conclusions:
- MRI-based kidney volume assessment effectively stratifies risk in pediatric ADPKD patients.
- PKD1 mutations and elevated blood pressure are more prevalent in higher-risk groups identified by age and kidney volume.
- Further studies are needed to confirm these findings and their clinical implications for pediatric ADPKD management.
Introduction:
In the pediatric context, most children with autosomal dominant polycystic kidney disease (ADPKD) maintain a normal glomerular filtration rate (GFR) despite underlying structural kidney damage, highlighting the critical need for early intervention and predictive markers. Due to the inverse relationship between kidney volume and kidney function, risk assessments have been presented on the basis of kidney volume. The aim of this study was to use magnetic resonance imaging (MRI)-based kidney volume assessment for risk stratification in pediatric ADPKD and to investigate clinical and genetic differences among risk groups.
Methods:
This multicenter, cross-sectional, and case-control study included 75 genetically confirmed pediatric ADPKD patients (5-18 years) and 27 controls. Kidney function was assessed by eGFR calculated from serum creatinine and cystatin C using the CKiD-U25 equation. Blood pressure was assessed by both office and 24-hour ambulatory measurements. Kidney volume was calculated from MRI using the stereological method. Total kidney volume was adjusted for the height (htTKV). Patients were stratified from A to E classes according to the Leuven Imaging Classification (LIC) using MRI-derived htTKV.
Results:
Median (Q1-Q3) age of the patients was 6.0 (2.0-10.0) years, 56% were male. There were no differences in sex, age, height-SDS, or GFR between the patient and control groups. Of the patients, 89% had PKD1 and 11% had PKD2 mutations. Non-missense mutations were 73% in PKD1 and 75% in PKD2. Twenty patients (27%) had hypertension based on ABPM. Median htTKV of the patients was significantly higher than controls (141 vs. 117 ml/m, p = 0.0003). LIC stratification revealed Classes A (38.7%), B (28%), C (24%), and D + E (9.3%). All children in class D + E and 94% in class C had PKD1 variants. Class D + E patients had significantly higher blood pressure values and hypertension compared to other classes (p > 0.05 for all).
Discussion:
This study distinguishes itself by using MRI-based measurements of kidney volume to stratify pediatric ADPKD patients into specific risk groups. It is important to note that PKD1 mutation and elevated blood pressure were higher in the high-risk groups stratified by age and kidney volume. Our results need to be confirmed in further studies.
Related Concept Videos
01:25Drug Dosing in Renal Diseases: Measurement of Glomerular Filtration Rate
01:28Drug Dosing in Renal Diseases: Estimation of Glomerular Filtration Rate Based on Serum Creatinine Concentration
01:28Imaging Studies I: Kidney, Ureter, and Bladder Studies
01:27Imaging Studies IV: Magnetic Resonance Imaging
01:30Acute Kidney Injury IV: Diagnostic Studies and Prevention
01:28Chronic Kidney Disease III: Interprofessional Care