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2/2025
vol. 100 Opis przypadku
Mutation of the NOP10 gene as a cause of steroid-resistant nephrotic syndrome coexisting with cataract, hearing loss, and enterocolitis
Iwona Ogarek
1
,
Elżbieta Szczęsny-Choruz
1
,
Dorota Drożdż
1
Pediatr Pol 2025; 100 (2): 199-202
Data publikacji online: 2025/07/04
Plik artykułu:
- Mutation of the NOP10.pdf
[0.13 MB]
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1. Lombel RM, Gipson DS, Hodson EM. Treatment of steroid-sensitive nephrotic syndrome: new guidelines from KDIGO. Pediatr Nephrol 2013; 28: 415-426. 2.
Trautmann A, Boyer O, Hodson E. IPNA clinical practice recommendations for the diagnosis and management of children with steroid-sensitive nephrotic syndrome. Pediatr Nephrol 2023; 38: 877-919. 3.
Lombel RM, Hodson EM, Gipson DS. Treatment of steroid-resistant nephrotic syndrome in children: new guidelines from KDIGO. Pediatr Nephrol 2013; 28: 409-414. 4.
Trautmann A, Vivarelli M, Samuel S, et al. IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome. Pediatr Nephrol 2020; 35: 1529-1561. 5.
Calado RT, Young NS. Telomere diseases. N Engl J Med 2009; 361: 2353-2365. 6.
Trahan C, Martel C, Dragon F. Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs. Hum Mol Genet 2010; 19: 825-836. 7.
Kannengiesser C, Manali ED, Revy P. First heterozygous NOP10 mutation in familial pulmonary fibrosis. Eur Respir J 2020; 55: 1902465. 8.
Penzo M, Montanaro L. Turning uridines around: role of rRNA pseudouridylation in ribosome biogenesis and ribosomal function. Biomolecules 2018; 8: 38. 9.
Narla A, Ebert BL. Ribosomopathies: human disorders of ribosome dysfunction. Blood 2010; 115: 3196-3205. 10.
Balogh E, Chandler JC, Varga M, et al. Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proc Natl Acad Sci U S A 2020; 117: 15137-15147. 11.
Penzo M, Guerrieri AN, Zacchini F, et al. RNA pseudouridylation in physiology and medicine: for better and for worse. Genes 2017; 8: 301. 12.
Braun DA, Rao J, Mollet G, et al. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet 2017; 49: 1529-1538.
Copyright: © 2025 Polish Society of Paediatrics. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License (http://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
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