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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
C. Gimpel, S. Fieuws, J. Hofstetter, D. Pitcher, L. Vanmeerbeek, S. Haeberle, A. Dachy, L. Massella, T. Seeman, B. Ranchin, L. Allard, J. Bacchetta, US. Bayrakci, F. Becherucci, V. Perez-Beltran, M. Besouw, H. Bialkevich, O. Boyer, N. Canpolat,...
Jazyk angličtina Země Spojené státy americké
Typ dokumentu srovnávací studie, časopisecké články, multicentrická studie
NLK
Freely Accessible Science Journals
od 1972
Open Access Digital Library
od 1972-01-01
- 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 MeSH
- Spojené království 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
Biostatistics and Statistical Bioinformatics Center KU Leuven Leuven Belgium
Center de Reference de Maladie Rares du Sud Ouest SORAR CHU Toulouse Toulouse France
College of Medicine and Dentistry James Cook University Townsville Australia
Department of Biomedical Experimental and Clinical Sciences University of Florence Florence Italy
Department of Clinical Epidemiology and Biostatistics McMaster University Hamilton Ontario Canada
Department of General Pediatrics University Children's Hospital Münster Münster Germany
Department of Internal Medicine and Pediatrics Ghent University Ghent Belgium
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 Pediatric Nephrology Ghent University Hospital Ghent Belgium
Department of Pediatric Nephrology University Hospital Leuven Leuven Belgium
Department of Pediatrics 2nd Medical Faculty Charles University Prague Prague Czech Republic
Department of Pediatrics FMS in Zabrze Medical University of Silesia Katowice Poland
Department of Pediatrics Medical Faculty University of Ostrava Ostrava Czech Republic
Department of Pediatrics ULiège Academic Hospital Liège Belgium
Department of Renal Medicine Townsville University Hospital Townsville Australia
Department of Renal Medicine University College London London UK
Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA
Division of Nephrology Bambino Gesù Children's Hospital IRCCS Rome Italy
Division of Nephrology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA
Division of Pediatric Nephrology Center for Pediatrics and Adolescent Medicine Heidelberg Germany
Division of Pediatric Nephrology Medical Faculty Marmara University Istanbul Turkey
Divison of Nephrology Saint Luc Academic Hospital Brussels Belgium
Institut Necker Enfants Malades INSERM U1151 Université Paris Cité Paris France
Institute for Molecular Bioscience the University of Queensland Brisbane Australia
Louvain Medical School Université Catholique de Louvain Louvain Belgium
National Registry of Rare Kidney Diseases Bristol UK
Nephrology and Dialysis Unit Meyer Children's Hospital IRCCS Florence Italy
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 Nephrologie Adultes AP HP Hôpital Necker Paris France
Service de Pédiatrie 2 CHU Besançon Besançon France
Service de Pédiatrie CHC MontLégia Liège Belgium
The KidGen Collaborative Australian Genomics Melbourne Australia
Unit of Nephrology Azienda Socio Sanitaria Territoriale Papa Giovanni XXIII Bergamo Italy
University of Belgrade Faculty of Medicine University Children's Hospital Belgrade Serbia
Citace poskytuje Crossref.org
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- 700 1_
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- 700 1_
- $a Allard, Lise $u Reference Center for Rare Kidney Diseases (SoRare), ERKNet, Department of Pediatrics, Bordeaux University Hospital, Bordeaux, France
- 700 1_
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- 700 1_
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- 700 1_
- $a Becherucci, Francesca $u Nephrology and Dialysis Unit, Meyer Children's Hospital IRCCS, Florence, Italy; Department of Biomedical Experimental and Clinical Sciences, University of Florence, Florence, Italy
- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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