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2/2025
vol. 100 Opis przypadku
Chronic kidney disease in a 7-year-old boy with an ultra-rare REN gene mutation. A case report and the literature review
Aleksandra Sobieszczańska-Droździel
1
,
Przemysław Sikora
1
Pediatr Pol 2025; 100 (2): 189-194
Data publikacji online: 2025/06/06
Plik artykułu:
- Chronic kidney (1).pdf
[0.24 MB]
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1. Panzarino V, Lesser J, Cassani FA. Pediatric chronic kidney disease. Adv Pediatr 2022; 69: 123-132. 2.
Sawaf H, Gudura TT, Dorobisz S, et al. Genetic susceptibility to chronic kidney disease: links, risks and management. Int J Nephrol Renovasc Dis 2023; 16: 1-15. 3.
Mabillard H, Sayer JA, Olinger E. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease. Nephrol Dial Transplant 2023; 38: 271-282. 4.
Živná M, Kidd KO, Barešová V, al. Autosomal dominant tubulointerstitial kidney disease: a review. Am J Med Genet C Semin Med Genet 2022; 190: 309-324. 5.
Kim GH, Jun JB. Altered serum uric acid levels in kidney disorders. Life (Basel) 2022; 12: 1891. 6.
Econimo L, Schaeffer C, Zeni L, et al. Autosomal dominant tubulointerstitial kidney disease: an emerging cause of genetic CKD. Kidney Int Rep 2022; 7: 2332-2344. 7.
Živná M, Kidd K, Zaidan M, et al. An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes. Kidney Int. 2020; 98: 1589-1604. 8.
Shamam YM, Hashmi MF. Autosomal dominant tubulointerstitial kidney disease. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan. Available from: https://www.ncbi.nlm.nih.gov/books/NBK568710/ (accessed: 26.06.2023). 9.
Eckardt KU, Alper SL, Antignac C, et al. Kidney disease: improving global outcomes. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management – a KDIGO consensus report. Kidney Int 2015; 88: 676-683. 10.
Devuyst O, Olinger E, Weber S. et al. Autosomal dominant tubulointerstitial kidney disease. Nat Rev Dis Primers 2019; 5: 60. 11.
Bleyer AJ, Wolf MT, Kidd KO, et al. Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β. Pediatr Nephrol 2022; 37: 933-946. 12.
Yasuoka Y, Izumi Y, Fukuyama T, et al. Effects of angiotensin II on erythropoietin production in the kidney and liver. Molecules 2021; 26: 5399. 13.
Fistrek Prlic M, Huljev Frkovic S, Beck B, et al. Two sides of the same coin: a complex presentation of autosomal dominant tubulointerstitial kidney diseases: a literature review and case reports. Front Pediatr 2023; 11: 1283325. 14.
Sinha F, Schweda F, Maier LS, et al. Impact of Impaired kidney function on arrhythmia-promoting cardiac ion channel regulation. Int J Mol Sci 2023; 24: 14198.
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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