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Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis

Infantile nephropathic cystinosis, due to impaired transport of cystine out of lysosomes, occurs with an incidence of 1 in 100-200,000 live births. It is characterized by renal Fanconi syndrome in the first year of life and glomerular dysfunction progression to end-stage kidney disease by approximat...

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Main Authors: Nießl, Christina (Author) , Boulesteix, Anne-Laure (Author) , Oh, Jun (Author) , Palm, Katja (Author) , Schlingmann, Peter (Author) , Wygoda, Simone (Author) , Haffner, Dieter (Author) , Wühl, Elke (Author) , Tönshoff, Burkhard (Author) , Büscher, Anja K. (Author) , Billing, Heiko (Author) , Hoppe, Bernd (Author) , Zirngibl, Matthias (Author) , Kettwig, Matthias (Author) , Moeller, Kristina (Author) , Acham-Roschitz, Birgit (Author) , Arbeiter, Klaus (Author) , Bald, Martin (Author) , Benz, Marcus R. (Author) , Galiano, Matthias Luigi (Author) , John-Kroegel, Ulrike (Author) , Klaus, Günter (Author) , Marx-Berger, Daniela (Author) , Moser, Katja (Author) , Mueller, Dirk (Author) , Patzer, Ludwig (Author) , Pohl, Martin (Author) , Seitz, Barbara (Author) , Treikauskas, Ulrike (Author) , Vigier, Rodo von (Author) , Gahl, William Allen (Author) , Hohenfellner, Katharina (Author)
Format: Article (Journal)
Language:English
Published: 2 July 2022
In: Molecular genetics and metabolism
Year: 2022, Volume: 136, Issue: 4, Pages: 268-273
ISSN:1096-7206
DOI:10.1016/j.ymgme.2022.06.010
Online Access:Resolving-System, kostenfrei: https://doi.org/10.1016/j.ymgme.2022.06.010
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1096719222003596
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Author Notes:Christina Nießl, Anne-Laure Boulesteix, Jun Oh, Katja Palm, Peter Schlingmann, Simone Wygoda, Dieter Haffner, Elke Wühl, Burkhard Tönshoff, Anja Buescher, Heiko Billing, Bernd Hoppe, Matthias Zirngibl, Matthias Kettwig, Kristina Moeller, Birgit Acham-Roschitz, Klaus Arbeiter, Martin Bald, Marcus Benz, Matthias Galiano, Ulrike John-Kroegel, Guenter Klaus, Daniela Marx-Berger, Katja Moser, Dirk Mueller, Ludwig Patzer, Martin Pohl, Barbara Seitz, Ulrike Treikauskas, Rodo O. von Vigier, William Allen Gahl, Katharina Hohenfellner
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Summary:Infantile nephropathic cystinosis, due to impaired transport of cystine out of lysosomes, occurs with an incidence of 1 in 100-200,000 live births. It is characterized by renal Fanconi syndrome in the first year of life and glomerular dysfunction progression to end-stage kidney disease by approximately 10 years of age. Treatment with oral cysteamine therapy helps preserve glomerular function, but affected individuals eventually require kidney replacement therapy.
Item Description:Gesehen am 04.10.2021
Physical Description:Online Resource
ISSN:1096-7206
DOI:10.1016/j.ymgme.2022.06.010

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