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Morphological changes and their associations with clinical parameters in children with nephropathic cystinosis and chronic kidney disease prior to kidney replacement therapy over 25 years

Infantile nephropathic cystinosis (INC) is a rare lysosomal storage disorder, mostly and often firstly affecting the kidneys, together with impaired disharmonious growth and rickets, eventually resulting in progressive chronic kidney disease (CKD). With the introduction of cysteamine therapy, most p...

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Main Authors: Brügelmann, Malina (Author) , Müller, Sophia (Author) , Bohlen, Alina V. (Author) , Hohenfellner, Katharina (Author) , Büscher, Anja (Author) , Kemper, Markus J. (Author) , Fröde, Kerstin (Author) , Kanzelmeyer, Nele (Author) , Oh, Jun (Author) , Billing, Heiko (Author) , Gellermann, Jutta (Author) , Müller, Dominik (Author) , Weber, Lutz T. (Author) , Acham-Roschitz, Birgit (Author) , Arbeiter, Klaus (Author) , Tönshoff, Burkhard (Author) , Hagenberg, Martina (Author) , Žebec, Mislav S. (Author) , Haffner, Dieter (Author) , Zivicnjak, Miroslav (Author)
Format: Article (Journal)
Language:English
Published: 8 June 2024
In: Pediatric nephrology
Year: 2024, Volume: 39, Issue: 10, Pages: 3067-3077
ISSN:1432-198X
DOI:10.1007/s00467-024-06421-6
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1007/s00467-024-06421-6
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Author Notes:Malina Brügelmann, Sophia Müller, Alina V. Bohlen, Katharina Hohenfellner, Anja Büscher, Markus J. Kemper, Kerstin Fröde, Nele Kanzelmeyer, Jun Oh, Heiko Billing, Jutta Gellermann, Dominik Müller, Lutz T. Weber, Birgit Acham-Roschitz, Klaus Arbeiter, Burkhard Tönshoff, Martina Hagenberg, Mislav S. Žebec, Dieter Haffner, Miroslav Zivicnjak
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Summary:Infantile nephropathic cystinosis (INC) is a rare lysosomal storage disorder, mostly and often firstly affecting the kidneys, together with impaired disharmonious growth and rickets, eventually resulting in progressive chronic kidney disease (CKD). With the introduction of cysteamine therapy, most pediatric patients reach adulthood with no need for kidney replacement therapy. Still, detailed changes in INC patients’ clinical and morphological presentation over the past decades have not yet been thoroughly investigated.
Item Description:Gesehen am 02.12.2024
Physical Description:Online Resource
ISSN:1432-198X
DOI:10.1007/s00467-024-06421-6

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