Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)
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 AR...
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| Main Authors: | , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
28 May 2019
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| In: |
Scientific reports
Year: 2019, Volume: 9 |
| ISSN: | 2045-2322 |
| DOI: | 10.1038/s41598-019-43488-w |
| Online Access: | Verlag, Volltext: https://doi.org/10.1038/s41598-019-43488-w Verlag, Volltext: https://www.nature.com/articles/s41598-019-43488-w 
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| Author Notes: | Kathrin Burgmaier, Samuel Kilian, Bert Bammens, Thomas Benzing, Heiko Billing, Anja Büscher, Matthias Galiano, Franziska Grundmann, Günter Klaus, Djalila Mekahli, Laurence Michel-Calemard, Gordana Milosevski-Lomic, Bruno Ranchin, Katja Sauerstein, Susanne Schaefer, Rukshana Shroff, Rosalie Sterenborg, Sarah Verbeeck, Lutz T. Weber, Dorota Wicher, Elke Wühl, Jörg Dötsch, Franz Schaefer, Max C. Liebau |
| Summary: | 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. |
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| Item Description: | Gesehen am 08.07.2019 |
| Physical Description: | Online Resource |
| ISSN: | 2045-2322 |
| DOI: | 10.1038/s41598-019-43488-w |