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

Media type: E-Article

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

Contributor: 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]

Published: 2 July 2022

Language: English

DOI: 10.1016/j.ymgme.2022.06.010

Identifier:

Keywords: Cysteamine ; Cystinosis ; Glomerular function

Origination:

Footnote:

Description: 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.

Access State: Open Access

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