Risk Severity Model for Pediatric Autosomal Dominant Polycystic Kidney Disease Using 3D Ultrasound Volumetry

Breysem, Luc; Keyzer, Frederik De; Schellekens, Pieter; Dachy, Angélique; Rechter, Stéphanie De; Janssens, Peter; Vennekens, Rudi; Bammens, Bert; Irazabal, Maria V.; Ongeval, Chantal Van; Harris, Peter C.; Mekahli, Djalila

doi:10.2215/cjn.0000000000000122

Cited by 7 publications

(7 citation statements)

References 53 publications

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“…Stratification according to MRI-based htTKV showed that almost 30% of ADPKD patients classified as high-risk LIC classes, which is a lower fraction than in the Leuven cohort (54%). This discrepancy may be due to the lower number of PKD2 cases in the LIC study (4%) compared to our cohort (8%), although still lower than in the MIC study (16%) (7,13).…”

Section: Discussioncontrasting

confidence: 72%

“…While therapeutic trials, including the use of tolvaptan, have been initiated in adults based on the MIC, there is a lack of dedicated studies in children (<15 years) to investigate the clinical applicability of htTKV in predicting disease progression or renal function decline in adulthood. Breysem et al (13) recently proposed a two-parameter ADPKD risk stratification model applicable to children and adolescents, incorporating htTKV and age, with validation by the Mayo and CRISP consortia using 3D ultrasound renal volumetry. Our study has shown that MRI-based renal volume measurement is also feasible in a cohort of children and young adolescents with a median age of 11.5 years.…”

Section: Discussionmentioning

confidence: 99%

“…The LIC Pediatric ADPKD model was used to categorize patients according to their htTKV into classes A, B, C, D and E. Cut-offs between severity grades of the htTKV were (ml/m) = AxB^(age^1.6) with A = 80, 90, 100, and 110 and B = 1.01, 1.012, 1.015, and 1.018 (13).…”

Section: Assessment Of Hypertensionmentioning

confidence: 99%

“…Moreover, the prediction models of htTKV increase shows great discrepancies before the adult age, underlines the importance of exploring the pediatric htKTV change (12). More recently, the utility of these classifications has been adapted to the pediatric population as the Leuven Imaging Classification (LIC), using three-dimensional ultrasound (3DUS) for kidney volume measurement (13).…”

Section: Introductionmentioning

confidence: 99%

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Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease

Yilmaz,

Saygili,

Canpolat

et al. 2024

Front. Pediatr.

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IntroductionIn 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.MethodsThis 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.ResultsMedian (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).DiscussionThis 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.

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Section: Discussioncontrasting

confidence: 72%

Section: Discussionmentioning

confidence: 99%

Section: Assessment Of Hypertensionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease

Yilmaz,

Saygili,

Canpolat

et al. 2024

Front. Pediatr.

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“…The disease progression of ADPKD can be monitored with serial beta-2 microglobulin (β2MG) and monocyte chemotactic protein-1 (MCP-1) [100,101]. Studies in adults showed an inverse correlation between kidney volume measured by MRI or three-dimensional ultrasound (3DUS) and kidney function [102][103][104]. Cystatin C, a marker used as an early indicator of kidney dysfunction in some centers, was measured only in a few of our patients.…”

Section: Progression To Ckd Esrd and Follow-up Of Patientsmentioning

confidence: 88%

Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review

Grlić,

Gregurović,

Martinić

et al. 2024

Children

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Introduction: Pediatric cystic kidney disease (CyKD) includes conditions characterized by renal cysts. Despite extensive research in this field, there are no reliable genetics or other biomarkers to estimate the phenotypic consequences. Therefore, CyKD in children heavily relies on clinical and diagnostic testing to predict the long-term outcomes. Aim: A retrospective study aimed to provide a concise overview of this condition and analyze real-life data from a single-center pediatric CyKD cohort followed during a 12-year period. Methods and Materials: Medical records were reviewed for extensive clinical, laboratory, and radiological data, treatment approaches, and long-term outcomes. Results: During the study period, 112 patients received a diagnosis of pediatric CyKD. Male patients were more involved than female (1:0.93). Fifty-six patients had a multicystic dysplastic kidney; twenty-one of them had an autosomal dominant disorder; fifteen had an isolated renal cyst; ten had been diagnosed with autosomal recessive polycystic kidney disease; three had the tuberous sclerosis complex; two patients each had Bardet–Biedl, Joubert syndrome, and nephronophthisis; and one had been diagnosed with the trisomy 13 condition. Genetic testing was performed in 17.9% of the patients, revealing disease-causing mutations in three-quarters (75.0%) of the tested patients. The most commonly presenting symptoms were abdominal distension (21.4%), abdominal pain (15.2%), and oligohydramnios (12.5%). Recurrent urinary tract infections (UTI) were documented in one-quarter of the patients, while 20.5% of them developed hypertension during the long-term follow-up. Antibiotic prophylaxis and antihypertensive treatment were the most employed therapeutic modalities. Seventeen patients progressed to chronic kidney disease (CKD), with thirteen of them eventually reaching end-stage renal disease (ESRD). The time from the initial detection of cysts on an ultrasound (US) to the onset of CKD across the entire cohort was 59.0 (7.0–31124.0) months, whereas the duration from the detection of cysts on an US to the onset of ESRD across the whole cohort was 127.0 (33.0–141.0) months. The median follow-up duration in the cohort was 3.0 (1.0–7.0) years. The patients who progressed to ESRD had clinical symptoms at the time of initial clinical presentation. Conclusion: This study is the first large cohort of patients reported from Croatia. The most common CyKD was the multicystic dysplastic kidney disease. The most common clinical presentation was abdominal distention, abdominal pain, and oliguria. The most common long-term complications were recurrent UTIs, hypertension, CKD, and ESRD.

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Estimating risk of rapid disease progression in pediatric patients with autosomal dominant polycystic kidney disease: a randomized trial of tolvaptan

Mekahli,

Guay-Woodford,

Cadnapaphornchai

et al. 2023

Pediatr Nephrol

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Background Tolvaptan preserves kidney function in adults with autosomal dominant polycystic kidney disease (ADPKD) at elevated risk of rapid progression. A trial (NCT02964273) evaluated tolvaptan safety and pharmacodynamics in children (5–17 years). However, progression risk was not part of study eligibility criteria due to lack of validated criteria for risk assessment in children. As risk estimation is important to guide clinical management, baseline characteristics of the study participants were retrospectively evaluated to determine whether risk of rapid disease progression in pediatric ADPKD can be assessed and to identify parameters relevant for risk estimation. Methods Four academic pediatric nephrologists reviewed baseline data and rated participant risk from 1 (lowest) to 5 (highest) based on clinical judgement and the literature. Three primary reviewers independently scored all cases, with each case reviewed by two primary reviewers. For cases with discordant ratings (≥ 2-point difference), the fourth reviewer provided a secondary rating blinded to the primary evaluations. Study participants with discordant ratings and/or for whom data were lacking were later discussed to clarify parameters relevant to risk estimation. Results Of 90 evaluable subjects, primary reviews of 69 (77%) were concordant. The proportion considered at risk of rapid progression (final mean rating ≥ 3.5) by age group was: 15–17 years, 27/34 (79%); 12– < 15, 9/32 (28%); 4– < 12, 8/24 (33%). The panelists agreed on characteristics important for risk determination: age, kidney imaging, kidney function, blood pressure, urine protein, and genetics. Conclusions High ratings concordance and agreement among reviewers on relevant clinical characteristics support the feasibility of pediatric risk assessment. Graphical abstract A higher resolution version of the Graphical abstract is available as Supplementary information

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Risk Severity Model for Pediatric Autosomal Dominant Polycystic Kidney Disease Using 3D Ultrasound Volumetry

Abstract: Visual Abstract

Cited by 7 publications

References 53 publications

Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease

Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease

Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review

Estimating risk of rapid disease progression in pediatric patients with autosomal dominant polycystic kidney disease: a randomized trial of tolvaptan

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