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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,...

. 2025 ; 108 (1) : 105-118. [pub] 20250321

Jazyk angličtina Země Spojené státy americké

Typ dokumentu srovnávací studie, časopisecké články, multicentrická studie

Perzistentní odkaz   https://www.medvik.cz/link/bmc25015215

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 Nephrology Kidney Transplantation and Arterial Hypertension the Children's Memorial Health Institute Warsaw Poland

Department of Paediatric Nephrology and Hypertension Jagiellonian University Medical College of Cracow Cracow Poland

Department of Paediatric Nephrology Ankara City Hospital Üniversiteler Mahallesi Bilkent Caddesi Çankaya Ankara Turkey

Department of Paediatric Nephrology Istanbul University Cerrahpasa Cerrahpasa Faculty of Medicine Istanbul Turkey

Department of Paediatrics University Medical Centre Maribor Maribor Slovenia

Department of Pediatric Nephrology Amsterdam UMC Emma Children's Hospital University of Amsterdam Amsterdam the Netherlands

Department of Pediatric Nephrology and Hypertension Medical University of Gdańsk Gdańsk Poland

Department of Pediatric Nephrology and Pediatric Rheumatology School of Medicine Canakkale Onsekiz Mart University Canakkale Turkey

Department of Pediatric Nephrology Ghent University Hospital Ghent Belgium

Department of Pediatric Nephrology University Hospital Leuven Leuven Belgium

Department of Pediatric Nephrology University Medical Center Groningen University of Groningen Groningen the Netherlands

Department of Pediatrics 2nd Medical Faculty Charles University Prague Prague Czech Republic

Department of Pediatrics and Center for Molecular Medicine Cologne Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany

Department of Pediatrics Faculty of Medicine and Dentistry Palacky University Olomouc and University Hospital Olomouc Olomouc 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

Department of Translational Medicine and Surgery Università Cattolica del Sacro Cuore Nephrology Unit Fondazione Policlinico Universitario A Gemelli IRCCS Rome Italy

Department of Woman Child and of General and Specialized Surgery Università degli Studi della Campania Luigi Vanvitelli Naples Italy

Division of Human Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

Division of Nephrology and Hypertension and the Kidney Institute University of Kansas Medical Center Kansas City Kansas 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

Giuliana and Bernardo Caprotti Chair of Pediatrics Department of Clinical Sciences and Community Health University of Milano Milan Italy

Institut Necker Enfants Malades INSERM U1151 Université Paris Cité Paris France

Institute for Molecular Bioscience the University of Queensland Brisbane Australia

Laboratoire des Maladies Rénales Héréditaires Inserm UMR 1163 Institut Imagine Université de Paris Cité Paris France

LH Service de Néphrologie Pédiatrique Centre de Référence MARHEA Hôpital Universitaire Necker Enfants Malades Assistance publique Hôpitaux de Paris Paris France

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

Nephrology Department University Medical Centre Ljubljana University Children's Hospital Ljubljana Slovenia

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 Dialysis and Transplant Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano Milan Italy

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

Pediatric Nephrology Unit Hôpital Femme Mère Enfant Hospices Civils de Lyon INSERM1033 Research Unit Université de Lyon European Rare Kidney Disease Reference Network Center Lyon France

Peditaric Nephrology Unit Regina Margherita Children's Hospital Turin Italy

PKD Research Group Laboratory of Ion Channel Research Department of Cellular and Molecular Medicine KU Leuven Leuven Belgium

Reference Center for Rare Kidney Diseases ERKNet Department of Pediatrics Bordeaux University Hospital Bordeaux France

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

Veltishev Research Clinical Institute for Pediatrics and Children Surgery Pirogov Russian National Research Medical University Moscow Russia

Citace poskytuje Crossref.org

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$a Seeman, Tomas $u Department of Pediatrics, 2nd Medical Faculty, Charles University Prague, Prague, Czech Republic; Department of Pediatrics, Medical Faculty, University of Ostrava, Ostrava, Czech Republic
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$a Ranchin, Bruno $u Pediatric Nephrology Unit, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, INSERM1033 Research Unit, Université de Lyon, European Rare Kidney Disease Reference Network Center, Lyon, France
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$a Allard, Lise $u Reference Center for Rare Kidney Diseases (SoRare), ERKNet, Department of Pediatrics, Bordeaux University Hospital, Bordeaux, France
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$a Bacchetta, Justine $u Pediatric Nephrology Unit, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, INSERM1033 Research Unit, Université de Lyon, European Rare Kidney Disease Reference Network Center, Lyon, France
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$a Bayrakci, Umut S $u Department of Paediatric Nephrology, Ankara City Hospital, Üniversiteler Mahallesi Bilkent Caddesi, Çankaya/Ankara, Turkey
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$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_
$a Perez-Beltran, Victor $u Paediatric Nephrology Department, University Hospital Vall d'Hebron, Barcelona, Spain
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$a Besouw, Martine $u Department of Pediatric Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
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700    1_
$a Chauveau, Dominique $u Service de Néphrologie Adulte - Hôpital Rangueil, University Hospital, Toulouse, France
700    1_
$a Çiçek, Neslihan $u Division of Pediatric Nephrology, Medical Faculty, Marmara University, Istanbul, Turkey
700    1_
$a Conlon, Peter J $u Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland
700    1_
$a Devuyst, Olivier $u Louvain Medical School, Université Catholique de Louvain, Louvain, Belgium; Divison of Nephrology, Saint-Luc Academic Hospital, Brussels, Belgium
700    1_
$a Dossier, Claire $u Pediatric Nephrology Department, Robert-Debre Hospital, APHP, Paris, France
700    1_
$a Fila, Marc $u Pediatric Nephrology, Montpellier University Hospital, SORARE Reference Center, Montpellier, France
700    1_
$a Flögelová, Hana $u Department of Pediatrics, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Olomouc, Czech Republic
700    1_
$a Godron-Dubrasquet, Astrid $u Reference Center for Rare Kidney Diseases (SoRare), ERKNet, Department of Pediatrics, Bordeaux University Hospital, Bordeaux, France
700    1_
$a Gokce, Ibrahim $u Division of Pediatric Nephrology, Medical Faculty, Marmara University, Istanbul, Turkey
700    1_
$a Nguyen-Tang, Elsa Gonzalez $u Pediatric Nephrology Unit, Department of Pediatrics, University of Geneva Hospital, Geneva, Switzerland
700    1_
$a González-Rodríguez, Juan David $u Pediatric Nephrology Department, Hospital Universitario Santa Lucía, Cartagena, Spain
700    1_
$a Guffens, Anne $u Service de Pédiatrie, CHC MontLégia, Liège, Belgium
700    1_
$a Grandaliano, Giuseppe $u Department of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, Nephrology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
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$a Heidet, Laurence $u LH, Service de Néphrologie Pédiatrique, Centre de Référence MARHEA, Hôpital Universitaire Necker-Enfants Malades, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Institut Imagine, Université de Paris-Cité, Paris, France
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700    1_
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700    1_
$a König, Jens Christian $u Department of General Pediatrics, University Children's Hospital Münster, Münster, Germany
700    1_
$a La Scola, Claudio $u Pediatric Nephrology, Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
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$a Leone, Valentina Fanny $u Unit of Nephrology, Azienda Socio Sanitaria Territoriale (ASST) Papa Giovanni XXIII, Bergamo, Italy
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700    1_
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700    1_
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700    1_
$a Lungu, Adrian C $u Pediatric Nephrology, Fundeni Clinical Institute, Bucharest, Romania
700    1_
$a Marzuillo, Pierluigi $u Department of Woman, Child and of General and Specialized Surgery, Università degli Studi della Campania "Luigi Vanvitelli", Naples, Italy
700    1_
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700    1_
$a Miklaszewska, Monika $u Department of Paediatric Nephrology and Hypertension, Jagiellonian University, Medical College of Cracow, Cracow, Poland
700    1_
$a Montini, Giovanni $u Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS, Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy; Giuliana and Bernardo Caprotti Chair of Pediatrics, Department of Clinical Sciences and Community Health, University of Milano, Milan, Italy
700    1_
$a Nobili, François $u Service de Pédiatrie 2, CHU Besançon, Besançon, France
700    1_
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700    1_
$a Papizh, Svetlana $u Veltishev Research Clinical Institute for Pediatrics & Children Surgery, Pirogov Russian National Research Medical University, Moscow, Russia
700    1_
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700    1_
$a Paripović, Dušan $u University of Belgrade Faculty of Medicine, University Children's Hospital, Belgrade, Serbia
700    1_
$a Peruzzi, Licia $u Peditaric Nephrology Unit, Regina Margherita Children's Hospital, Turin, Italy
700    1_
$a Raes, Ann $u Department of Pediatric Nephrology, Ghent University Hospital, Ghent, Belgium; Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium
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700    1_
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700    1_
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700    1_
$a Trepiccione, Francesco $u Department of Medical Translational Sciences, University of Campania, Naples, Italy
700    1_
$a Varda, Nataša Marčun $u Department of Paediatrics, University Medical Centre Maribor, Maribor, Slovenia
700    1_
$a Westland, Rik $u Department of Pediatric Nephrology, Amsterdam UMC-Emma Children's Hospital, University of Amsterdam, Amsterdam, the Netherlands
700    1_
$a Yüksel, Selcuk $u Department of Pediatric Nephrology and Pediatric Rheumatology, School of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey
700    1_
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700    1_
$a Tenebaum, Julie $u Pediatric Nephrology, Montpellier University Hospital, SORARE Reference Center, Montpellier, France
700    1_
$a Mustafa, Reem $u Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, Ontario, Canada; Division of Nephrology and Hypertension and the Kidney Institute, University of Kansas Medical Center, Kansas City, Kansas, USA
700    1_
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700    1_
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700    1_
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700    1_
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