Ebner, Kathrin, Feldkoetter, Markus, Ariceta, Gema, Bergmann, Carsten, Buettner, Reinhard, Doyon, Anke, Duzova, Ali, Goebel, Heike, Haffner, Dieter, Hero, Barbara, Hoppe, Bernd, Illig, Thomas, Jankauskiene, Augustina, Klopp, Norman, Koenig, Jens, Litwin, Mieczyslaw ORCID: 0000-0002-5241-2483, Mekahli, Djalila ORCID: 0000-0003-0954-6088, Ranchin, Bruno, Sander, Anja, Testa, Sara, Weber, Lutz Thorsten, Wicher, Dorota ORCID: 0000-0002-8360-0006, Yuzbasioglu, Ayse, Zerres, Klaus, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2015). Rationale, design and objectives of ARegPKD, a European ARPKD registry study. BMC Nephrol., 16. LONDON: BIOMED CENTRAL LTD. ISSN 1471-2369

Full text not available from this repository.

Abstract

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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Ebner, KathrinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Feldkoetter, MarkusUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ariceta, GemaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bergmann, CarstenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buettner, ReinhardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Doyon, AnkeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Duzova, AliUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Goebel, HeikeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haffner, DieterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hero, BarbaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoppe, BerndUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Illig, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jankauskiene, AugustinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Klopp, NormanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Koenig, JensUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Litwin, MieczyslawUNSPECIFIEDorcid.org/0000-0002-5241-2483UNSPECIFIED
Mekahli, DjalilaUNSPECIFIEDorcid.org/0000-0003-0954-6088UNSPECIFIED
Ranchin, BrunoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sander, AnjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Testa, SaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weber, Lutz ThorstenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wicher, DorotaUNSPECIFIEDorcid.org/0000-0002-8360-0006UNSPECIFIED
Yuzbasioglu, AyseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zerres, KlausUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Doetsch, JoergUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schaefer, FranzUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Liebau, Max ChristophUNSPECIFIEDorcid.org/0000-0003-0494-9080UNSPECIFIED
URN: urn:nbn:de:hbz:38-407367
DOI: 10.1186/s12882-015-0002-z
Journal or Publication Title: BMC Nephrol.
Volume: 16
Date: 2015
Publisher: BIOMED CENTRAL LTD
Place of Publication: LONDON
ISSN: 1471-2369
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
POLYCYSTIC KIDNEY-DISEASE; CONGENITAL HEPATIC-FIBROSIS; BLOOD-PRESSURE; PROGRESSION; CILIOPATHIES; CHILDREN; LIVER; TRANSPLANTATION; INHIBITION; MECHANISMSMultiple languages
Urology & NephrologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/40736

Downloads

Downloads per month over past year

Altmetric

Export

Actions (login required)

View Item View Item