Rationale, design and objectives of ARegPKD, a European ARPKD registry study
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- 作者：Kathrin Ebner (1)
Markus Feldkoetter (2)
Gema Ariceta (3)
Carsten Bergmann (4) (5)
Reinhard Buettner (6)
Anke Doyon (7)
Ali Duzova (8)
Heike Goebel (6)
Dieter Haffner (9)
Barbara Hero (1)
Bernd Hoppe (2)
Thomas Illig (10) (11)
Augustina Jankauskiene (12)
Norman Klopp (10)
Jens K枚nig (13)
Mieczyslaw Litwin (14)
Djalila Mekahli (15)
Bruno Ranchin (16)
Anja Sander (17)
Sara Testa (18)
Lutz Thorsten Weber (1)
Dorota Wicher (14)
Ayse Yuzbasioglu (19)
Klaus Zerres (20)
J枚rg D枚tsch (1)
Franz Schaefer (7)
Max Christoph Liebau (1) (21) (22)
ESCAPE Study Group
GPN Study Group
1. Department of Pediatrics ; University Hospital of Cologne ; Kerpener Str. 62 ; 50937 ; Cologne ; Germany
2. Department of Pediatrics ; University Hospital Bonn ; Adenauerallee 119 ; 53113 ; Bonn ; Germany
3. Department of Pediatric Nephrology ; University Hospital Vall d鈥橦ebron ; Pg/Vall d鈥?Hebron 119-129 ; 08034 ; Barcelona ; Spain
4. Bioscientia Center for Human Genetics ; Konrad-Adenauer-Stra脽e 17 ; 55218 ; Ingelheim ; Germany
5. Renal Division ; Department of Medicine ; University Freiburg Medical Center ; Hugstetter Stra脽e 55 ; 79106 ; Freiburg ; Germany
6. Institute of Pathology ; University Hospital of Cologne ; Kerpener Str. 62 ; 50937 ; Cologne ; Germany
7. Division of Pediatric Nephrology ; University Children鈥檚 Hospital Heidelberg ; Im Neuenheimer Feld 430 ; 69120 ; Heidelberg ; Germany
8. Department of Pediatrics ; Division of Pediatric Nephrology ; Hacettepe University Faculty of Medicine ; Sihhiye ; 06100 ; Ankara ; Turkey
9. Department of Pediatric Kidney ; Liver and Metabolic Diseases ; Hannover Medical School ; Carl-Neuberg-Strasse 1 ; 30625 ; Hannover ; Germany
10. Hannover Unified Biobank ; Hannover Medical School ; Carl-Neuberg-Strasse 1 ; 30625 ; Hannover ; Germany
11. Institute for Human Genetics ; Hannover Medical School ; Carl-Neuberg-Strasse 1 ; 30625 ; Hannover ; Germany
12. Vilnius University Hospital ; Center for Pediatrics ; Santariskiu ; 08406 ; Vilnius ; Lithuania
13. Department of General Pediatrics ; University Hospital M眉nster ; Waldeyerstr. 22 ; 48149 ; Muenster ; Germany
14. The Children鈥檚 Memorial Health Institute ; Al. Dzieci Polskich 20 ; 04-730 ; Warsaw ; Poland
15. Department of Pediatric Nephrology ; University Hospitals Leuven ; Herestrtaat 49 ; 3000 ; Leuven ; Belgium
16. Service de N茅phrologie P茅diatrique ; Hospices Civils de Lyon ; Universit茅 de Lyon ; H么pital Femme M猫re Enfant ; 69677 ; Bron ; France
17. Institute of Medical Biometry and Informatics ; University of Heidelberg ; Im Neuenheimer Feld 305 ; 69120 ; Heidelberg ; Germany
18. Pediatric Nephrology Unit ; Fondazione IRCCS Ca Granda Ospedale Maggiore Polic ; Via della Commenda 9 ; 20122 ; Milano ; Italy
19. Department of Medical Biology ; Center for Biobanking and Genomics ; Hacettepe University ; Ankara ; Turkey
20. Institute of Human Genetics ; RWTH University Hospital Aachen ; Pauwelsstrasse 30 ; 52074 ; Aachen ; Germany
21. Center for Molecular Medicine ; University Hospital of Cologne ; Robert-Koch-Str. 21 ; 50931 ; Cologne ; Germany
22. Nephrology Research Laboratory ; Department II of Internal Medicine ; University Hospital of Cologne ; CECAD Building ; Joseph-Stelzmann-Str. 26 ; 50931 ; Cologne ; Germany - 关键词：ARPKD ; Ciliopathy ; PKHD1 ; Polycystic kidney disease ; Congenital hepatic fibrosis
- 刊名：BMC Nephrology
- 出版年：2015
- 出版时间：December 2015
- 年：2015
- 卷：16
- 期：1
- 全文大小：505 KB
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- 出版者：BioMed Central
- ISSN：1471-2369
文摘
Background Autosomal recessive polycystic kidney disease (ARPKD) is a rare but frequently severe disorder that is typically characterized by cystic kidneys and congenital hepatic fibrosis but displays pronounced phenotypic heterogeneity. ARPKD is among the most important causes for pediatric end stage renal disease and a leading reason for liver-, kidney- or combined liver kidney transplantation in childhood. The underlying pathophysiology, the mechanisms resulting in the observed clinical heterogeneity and the long-term clinical evolution of patients remain poorly understood. Current treatment approaches continue to be largely symptomatic and opinion-based even in most-advanced medical centers. While large clinical trials for the frequent and mostly adult onset autosomal dominant polycystic kidney diseases have recently been conducted, therapeutic initiatives for ARPKD are facing the challenge of small and clinically variable cohorts for which reliable end points are hard to establish. Methods/Design ARegPKD is an international, mostly European, observational study to deeply phenotype ARPKD patients in a pro- and retrospective fashion. This registry study is conducted with the support of the German Society for Pediatric Nephrology (GPN) and the European Study Consortium for Chronic Kidney Disorders Affecting Pediatric Patients (ESCAPE Network). ARegPKD clinically characterizes long-term ARPKD courses by a web-based approach that uses detailed basic data questionnaires in combination with yearly follow-up visits. Clinical data collection is accompanied by associated biobanking and reference histology, thus setting roots for future translational research. Discussion The novel registry study ARegPKD aims to characterize miscellaneous subcohorts and to compare the applied treatment options in a large cohort of deeply characterized patients. ARegPKD will thus provide evidence base for clinical treatment decisions and contribute to the pathophysiological understanding of this severe inherited disorder.