Veys, Koenraad;
Zadora, Ward;
Hohenfellner, Katharina;
Bockenhauer, Detlef;
Janssen, Mirian CH;
Niaudet, Patrick;
Servais, Aude;
... Levtchenko, Elena; + view all
(2023)
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.
Journal of Inherited Metabolic Disease
, 46
(1)
pp. 43-54.
10.1002/jimd.12562.
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Abstract
BACKGROUND: Infantile Nephropathic Cystinosis (INC) is an inheritable lysosomal storage disorder characterized by lysosomal cystine accumulation, progressive kidney disease and multiple extra-renal complications (ERC). Cysteamine postpones the onset of end-stage kidney disease (ESKD) and reduces the incidence of ERCs, however, cysteamine is generally initiated upon establishment of the renal Fanconi Syndrome (FS) and partial loss of kidney function, whereas data on long-term effects of cysteamine administered from neonatal age are lacking. MATERIALS & METHODS: An international multicenter retrospective cohort study of siblings with INC was set up to investigate the outcome in relation to age at initiation of cysteamine versus CTNS genotype, with attention to patients treated with cysteamine from neonatal age. RESULTS: None of the siblings treated from neonatal age (n=9; age 10 ± 6 years) had reached ESKD, while 22% of their index counterparts (n=9; age 14 ± 5 years) had commenced renal replacement therapy. Siblings treated with cysteamine from the onset of symptoms at a younger age compared to their index counterparts, reached ESKD at a significant older age (13 ± 3 years vs. 10 ± 3 years, p = 0.002). In contrast, no significant difference in ERCs was observed between sibling and index patients, independently from the age at initiation of cysteamine. The CTNS genotype had no impact on the overall outcome in this cohort. CONCLUSIONS: In INC, presymptomatic treatment with cysteamine results in a better renal outcome in comparison to treatment initiated from the onset of symptoms. This justifies including cystinosis into newborn screening programs.
| Type: | Article |
|---|---|
| Title: | Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/jimd.12562 |
| Publisher version: | https://doi.org/10.1002/jimd.12562 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | cystinosis, genotype, newborn screening, outcome, siblings |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Renal Medicine |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10158892 |
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