Gimpel, Charlotte;
Fieuws, Steffen;
Hofstetter, Jonas;
Pitcher, David;
Vanmeerbeek, Lotte;
Haeberle, Stefanie;
Dachy, Angélique;
... ADPedKD collaborators; + view all
(2025)
Insights from ADPedKD, ERKReg and RaDaR registries provide a multi-national perspective on the presentation of childhood autosomal dominant polycystic kidney disease in high- and middle-income countries.
Kidney International
10.1016/j.kint.2025.02.026.
(In press).
![[thumbnail of 2025 Gimpel et al ADPedKD and RaDaR into childhood ADPKD Kindey Int_Proof.pdf]](https://discovery.ucl.ac.uk/style/images/fileicons/text.png) |
Text
2025 Gimpel et al ADPedKD and RaDaR into childhood ADPKD Kindey Int_Proof.pdf - Accepted Version Access restricted to UCL open access staff until 22 March 2026. Download (4MB) |
Abstract
Data on the presentation of Autosomal Dominant Polycystic Kidney Disease (ADPKD) in children has been based on small/regional cohorts and practices regarding both asymptomatic screening in minors and genetic testing differ greatly between countries. To provide a global perspective, we analyzed over 2100 children and adolescents with ADPKD from 32 countries in six World Health Organization regions: 1060 children from the multi-national ADPedKD registry were compared to 269 pediatric patients from the United Kingdom (RaDaR) and 825 from the European Rare Kidney Disease Registry (ERKReg). Asymptomatic family screening was a common mode of presentation (48% in ADPedKD, 62% in ERKReg) with broad international variability (19%-75%), but fairly stable temporal trends in both registries with no correlation to genetic testing. The national rates of genetic testing varied and correlated significantly with healthcare expenditure (odds ratio 1.030 per 100 United States Dollars/capita/year, in the ERKReg cohort), with little variation over time. Diagnosis due to prenatal abnormalities was more common than anticipated at 14% increasing steadily from 2000 onward in both registries. Realistically, a high proportion of children were diagnosed with ADPKD by active screening, underlining that families affected by ADPKD have a high need for counselling on the complex issues around presymptomatic diagnosis. Regional variations in rate of genetic testing appeared to be driven by economic factors. However, large differences in rate of active screening were not correlated to healthcare spending and probably reflect the influence of different of cultural, legal and ethical frameworks on families and clinicians in different healthcare systems.
| Type: | Article |
|---|---|
| Title: | Insights from ADPedKD, ERKReg and RaDaR registries provide a multi-national perspective on the presentation of childhood autosomal dominant polycystic kidney disease in high- and middle-income countries |
| Location: | United States |
| DOI: | 10.1016/j.kint.2025.02.026 |
| Publisher version: | https://doi.org/10.1016/j.kint.2025.02.026 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Autosomal dominant polycystic kidney disease; children; adolescents; registry; phenotype; genetic testing; demographics |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Renal Medicine |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10206692 |
Archive Staff Only
 |
View Item |
