Universität zu Köln

Ebner, Kathrin, Schaefer, Franz and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2017). Recent Progress of the ARegPKD Registry Study on Autosomal Recessive Polycystic Kidney Disease. Front. Pediatr., 5. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2296-2360

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Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disease with a severe phenotype often presenting prenatally or in early childhood. With its obligate renal and hepatic involvement, ARPKD is one of the most important indications for liver and/or kidney transplantation in childhood. Marked phenotypic variability is observed, the genetic basis of which is largely unknown. Treatment is symptomatic and largely empiric as evidence-based guidelines are lacking. Therapeutic initiatives for ARPKD face the problem of highly variable cohorts and lack of clinical or biochemical risk markers without clear-cut clinical end points. ARegPKD is an international, multicenter, retro- and prospective, observational study to deeply phenotype patients with the clinical diagnosis of ARPKD. Initiated in 2013 as a web-based registry (www.aregpkd.org), ARegPKD enrolls patients across large parts of Europe and neighboring countries. By January 2017, more than 400 patients from 17 mostly European countries have been registered in the ARPKD registry study with significant follow-up data. Due to comprehensive retro- and prospective data collection and associated biobanking, ARegPKD will generate a unique ARPKD cohort with detailed longitudinal clinical characterization providing a basis for future clinical trials as well as translational research. Hence, ARegPKD is hoped to contribute to the pathophysiological understanding of the disease and to the improvement of clinical management.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Ebner, Kathrin UNSPECIFIED UNSPECIFIED UNSPECIFIED Schaefer, Franz UNSPECIFIED UNSPECIFIED UNSPECIFIED Liebau, Max Christoph UNSPECIFIED orcid.org/0000-0003-0494-9080 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-239679
DOI:	10.3389/fped.2017.00018
Journal or Publication Title:	Front. Pediatr.
Volume:	5
Date:	2017
Publisher:	FRONTIERS MEDIA SA
Place of Publication:	LAUSANNE
ISSN:	2296-2360
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language CLINICAL-EXPERIENCE; PKHD1 MUTATIONS; DOMINANT; ARPKD; CILIOPATHIES; VOLUME; MECHANISMS; DIAGNOSIS; TOLVAPTAN; GROWTH Multiple languages Pediatrics Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/23967