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:
CreatorsEmailORCIDORCID Put Code
Burgmaier, KathrinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kilian, SamuelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bammens, BertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Benzing, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Billing, HeikoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buescher, AnjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Galiano, MatthiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Grundmann, FranziskaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Klaus, GuenterUNSPECIFIEDorcid.org/0000-0001-9453-4326UNSPECIFIED
Mekahli, DjalilaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Michel-Calemard, LaurenceUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Milosevski-Lomic, GordanaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ranchin, BrunoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sauerstein, KatjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schaefer, SusanneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shroff, RukshanaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sterenborg, RosalieUNSPECIFIEDorcid.org/0000-0003-4758-9185UNSPECIFIED
Verbeeck, SarahUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weber, Lutz T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wicher, DorotaUNSPECIFIEDorcid.org/0000-0002-8360-0006UNSPECIFIED
Wuehl, ElkeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Doetsch, JoergUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schaefer, FranzUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Liebau, Max C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
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:
KeywordsLanguage
PKHD1 MUTATIONS; PATIENT; LIVER; ENCODES; ASSOCIATION; PROTEIN; GENE; SIZEMultiple languages
Multidisciplinary SciencesMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/14780

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