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
Jazyk angličtina Země Spojené státy americké Médium print-electronic
Typ dokumentu srovnávací studie, časopisecké články, multicentrická studie
PubMed
40122340
DOI
10.1016/j.kint.2025.02.026
PII: S0085-2538(25)00253-4
Knihovny.cz E-zdroje
- Klíčová slova
- adolescents, autosomal dominant polycystic kidney disease, children, demographics, genetic testing, registry,
- MeSH
- dítě MeSH
- genetické testování statistika a číselné údaje ekonomika MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- polycystické ledviny autozomálně dominantní * diagnóza epidemiologie genetika ekonomika MeSH
- předškolní dítě MeSH
- prenatální diagnóza MeSH
- registrace MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- srovnávací studie MeSH
- Geografické názvy
- Evropa epidemiologie MeSH
- Spojené království epidemiologie MeSH
Data on the presentation of Autosomal Dominant Polycystic Kidney Disease (ADPKD) in children have 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.
1st Department of Childhood Diseases Belarusian State Medical University Minsk Republic of Belarus
Center de Reference de Maladie Rares du Sud Ouest SORAR CHU Toulouse Toulouse France
Department of General Pediatrics University Children's Hospital Münster Münster Germany
Department of Medical Translational Sciences University of Campania Naples Italy
Department of Nephrology and Transplantation Beaumont Hospital Dublin Ireland
Department of Nephrology Institute for Mother and Child Health Care Belgrade Serbia
Department of Paediatrics University Medical Centre Maribor Maribor Slovenia
Department of Pediatric Nephrology and Hypertension Medical University of Gdańsk Gdańsk Poland
Department of Pediatrics FMS in Zabrze Medical University of Silesia Katowice Poland
Division of Nephrology Bambino Gesù Children's Hospital IRCCS Rome Italy
Division of Pediatric Nephrology Center for Pediatrics and Adolescent Medicine Heidelberg Germany
Division of Pediatric Nephrology Medical Faculty Marmara University Istanbul Turkey
Paediatric Nephrology Department University Hospital Vall d'Hebron Barcelona Spain
Pediatric Center Institute of Clinical Medicine Vilnius University Vilnius Lithuania
Pediatric Nephrology Department Hospital Universitario Santa Lucía Cartagena Spain
Pediatric Nephrology Department Robert Debre Hospital APHP Paris France
Pediatric Nephrology Fundeni Clinical Institute Bucharest Romania
Pediatric Nephrology Montpellier University Hospital SORARE Reference Center Montpellier France
Pediatric Nephrology Pediatric Unit IRCCS Azienda Ospedaliero Universitaria di Bologna Bologna Italy
Pediatric Nephrology Unit CHU La Réunion Saint Denis France
Pediatric Nephrology Unit Department of Pediatrics University of Geneva Hospital Geneva Switzerland
Peditaric Nephrology Unit Regina Margherita Children's Hospital Turin Italy
Service de Néphrologie Adulte Hôpital Rangueil University Hospital Toulouse France
Service de Pédiatrie 2 CHU Besançon Besançon France
Service de Pédiatrie CHC MontLégia Liège Belgium
Unit of Nephrology Azienda Socio Sanitaria Territoriale Papa Giovanni XXIII Bergamo Italy
University of Belgrade Faculty of Medicine University Children's Hospital Belgrade Serbia
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