Universität zu Köln

Burgmaier, Kathrin, Kilian, Samuel, Bammens, Bert, Benzing, Thomas, Billing, Heiko, Buescher, Anja, Galiano, Matthias, Grundmann, Franziska, Klaus, Guenter ORCID: 0000-0001-9453-4326, Mekahli, Djalila, Michel-Calemard, Laurence, Milosevski-Lomic, Gordana, Ranchin, Bruno, Sauerstein, Katja, Schaefer, Susanne, Shroff, Rukshana, Sterenborg, Rosalie ORCID: 0000-0003-4758-9185, Verbeeck, Sarah, Weber, Lutz T., Wicher, Dorota ORCID: 0000-0002-8360-0006, Wuehl, Elke, Doetsch, Joerg, Schaefer, Franz and Liebau, Max C. (2019). Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD). Sci Rep, 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

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Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is a severe pediatric hepatorenal disorder with pronounced phenotypic variability. A substantial number of patients with early diagnosis reaches adulthood and some patients are not diagnosed until adulthood. Yet, clinical knowledge about adult ARPKD patients is scarce. Here, we describe forty-nine patients with longitudinal follow-up into young adulthood that were identified in the international ARPKD cohort study ARegPKD. Forty-five patients were evaluated in a cross-sectional analysis at a mean age of 21.4 (+/- 3.3) years describing hepatorenal findings. Renal function of native kidneys was within CKD stages 1 to 3 in more than 50% of the patients. Symptoms of hepatic involvement were frequently detected. Fourteen (31%) patients had undergone kidney transplantation and six patients (13%) had undergone liver transplantation or combined liver and kidney transplantation prior to the visit revealing a wide variability of clinical courses. Hepatorenal involvement and preceding complications in other organs were also evaluated in a time-to-event analysis. In summary, we characterize the broad clinical spectrum of young adult ARPKD patients. Importantly, many patients have a stable renal and hepatic situation in young adulthood. ARPKD should also be considered as a differential diagnosis in young adults with fibrocystic hepatorenal disease.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Burgmaier, Kathrin UNSPECIFIED UNSPECIFIED UNSPECIFIED Kilian, Samuel UNSPECIFIED UNSPECIFIED UNSPECIFIED Bammens, Bert UNSPECIFIED UNSPECIFIED UNSPECIFIED Benzing, Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED Billing, Heiko UNSPECIFIED UNSPECIFIED UNSPECIFIED Buescher, Anja UNSPECIFIED UNSPECIFIED UNSPECIFIED Galiano, Matthias UNSPECIFIED UNSPECIFIED UNSPECIFIED Grundmann, Franziska UNSPECIFIED UNSPECIFIED UNSPECIFIED Klaus, Guenter UNSPECIFIED orcid.org/0000-0001-9453-4326 UNSPECIFIED Mekahli, Djalila UNSPECIFIED UNSPECIFIED UNSPECIFIED Michel-Calemard, Laurence UNSPECIFIED UNSPECIFIED UNSPECIFIED Milosevski-Lomic, Gordana UNSPECIFIED UNSPECIFIED UNSPECIFIED Ranchin, Bruno UNSPECIFIED UNSPECIFIED UNSPECIFIED Sauerstein, Katja UNSPECIFIED UNSPECIFIED UNSPECIFIED Schaefer, Susanne UNSPECIFIED UNSPECIFIED UNSPECIFIED Shroff, Rukshana UNSPECIFIED UNSPECIFIED UNSPECIFIED Sterenborg, Rosalie UNSPECIFIED orcid.org/0000-0003-4758-9185 UNSPECIFIED Verbeeck, Sarah UNSPECIFIED UNSPECIFIED UNSPECIFIED Weber, Lutz T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Wicher, Dorota UNSPECIFIED orcid.org/0000-0002-8360-0006 UNSPECIFIED Wuehl, Elke UNSPECIFIED UNSPECIFIED UNSPECIFIED Doetsch, Joerg UNSPECIFIED UNSPECIFIED UNSPECIFIED Schaefer, Franz UNSPECIFIED UNSPECIFIED UNSPECIFIED Liebau, Max C. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-147806
DOI:	10.1038/s41598-019-43488-w
Journal or Publication Title:	Sci Rep
Volume:	9
Date:	2019
Publisher:	NATURE PUBLISHING GROUP
Place of Publication:	LONDON
ISSN:	2045-2322
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language PKHD1 MUTATIONS; PATIENT; LIVER; ENCODES; ASSOCIATION; PROTEIN; GENE; SIZE Multiple languages Multidisciplinary Sciences Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/14780