Síndrome de Alport na Idade Pediátrica: do diagnóstico até aos cuidados de transição da idade adulta
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https://doi.org/10.25753/BirthGrowthMJ.v33.i1.35335Downloads
Referências
Kallash M, Rheault MN. Approach to Persistent Microscopic Hematuria in Children. Kidney360. 2020 Jul 10;1(9):1014-1020. doi: https://doi.org/10.34067/KID.0003222020.
Kashtan CE. Genetic testing and glomerular hematuria-A nephrologist's perspective. Am J Med Genet C Semin Med Genet. 2022 Sep;190(3):399-403. doi: https://doi.org/10.1002/ajmg.c.31987.
Warady BA, Agarwal R, Bangalore S, Chapman A, Levin A, Stenvinkel P, et al. Alport Syndrome Classification and Management. Kidney Med. 2020 Aug 7;2(5):639-649. doi: https://doi.org/10.1016/j.xkme.2020.05.014.
Gibson J, Fieldhouse R, Chan MMY, Sadeghi-Alavijeh O, Burnett L; Genomics England Research Consortium, et al. Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome. J Am Soc Nephrol. 2021 Sep;32(9):2273-2290. doi: https://doi.org/10.1681/ASN.2020071065.
Kashtan CE. Alport Syndrome: Achieving Early Diagnosis and Treatment. Am J Kidney Dis. 2021 Feb;77(2):272-279. doi: https://doi.org/10.1053/j.ajkd.2020.03.026.
Kashtan CE, Ding J, Garosi G, Heidetet L, Massella L, Nakanishi K, et al. Alport syndrome: a unified classification of genetic disorders of collagen IV alpha345: a position paper of the Alport Syndrome Classification Working Group. Kidney Int. 2018;93:1045-1051.
Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, et al. A review of clinical characteristics and genetic backgrounds in Alport syndrome. Clin Exp Nephrol. 2019 Feb;23(2):158-168. doi: https://doi.org/10.1007/s10157-018-1629-4.
Groopman EE, Marasa M, Cameron-Christie S, Petrovski S, Aggarwal VS, Milo-Rasouly H, et al. Diagnostic Utility of Exome Sequencing for Kidney Disease. New England Journal of Medicine. 2018;380:142-151.
Savige J, Harraka P. Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3-COL4A5) and Their Association With Other Kidney Conditions: A Review. Am J Kidney Dis. 2021 Dec;78(6):857-864. doi: https://doi.org/10.1053/j.ajkd.2021.04.017.
Gast C, Pengelly RJ, Lyon M, Bunyan DJ, Seaby EG, Graham N, et al. Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis. Nephrol Dial Transplant. 2016 Jun;31(6):961-70. doi: https://doi.org/10.1093/ndt/gfv325.
Li Y, Groopman EE, D'Agati V, Prakash S, Zhang J, Mizerska-Wasiak M, et al. Type IV Collagen Mutations in Familial IgA Nephropathy. Kidney Int Rep. 2020 Apr 24;5(7):1075-1078. doi: https://doi.org/10.1016/j.ekir.2020.04.011.
Ottlewski I, Münch J, Wagner T, Schönauer R, Bachmann A, Weimann A, et al. Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease. Kidney Int. 2019 Jul;96(1):222-230. doi: https://doi.org/10.1016/j.kint.2019.01.038.
Leenen E, Erger F, Altmüller J, Wenzel A, Thiele H, Harth A, et al. Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end-stage renal disease of unknown origin-a single-center analysis. Nephrol Dial Transplant. 2022 Sep 22;37(10):1895-1905. doi: https://doi.org/10.1093/ndt/gfac163.
Akihisa T, Sato M, Wakayama Y, Taneda S, Horita S, Hirose O, et al. Glomerular Basement Membrane Protein Expression and the Diagnosis and Prognosis of Autosomal Dominant Alport Syndrome. Kidney Med. 2019 Aug 20;1(6):391-396. doi: https://doi.org/10.1016/j.xkme.2019.06.007.
Savige J, Renieri A, Ars E, Daga S, Pinto AM, Rothe H, et al. Digenic Alport Syndrome. Clin J Am Soc Nephrol. 2022 Nov;17(11):1697-1706. doi: https://doi.org/10.2215/CJN.03120322. Epub 2022 Jun 8. Erratum in: Clin J Am Soc Nephrol. 2023 Apr 1;18(4):511.
Mencarelli MA, Heidet L, Storey H, van Geel M, Knebelmann B, Fallerini C, et al. Evidence of digenic inheritance in Alport syndrome. J Med Genet. 2015 Mar;52(3):163-74. doi: https://doi.org/10.1136/jmedgenet-2014-102822.
Deltas C. Digenic inheritance and genetic modifiers. Clin Genet. 2018 Mar;93(3):429-438. doi: https://doi.org/10.1111/cge.13150.
Savige J, Renieri A, Ars E, Daga S, Pinto AM, Rothe H, et al. Digenic Alport Syndrome. Clin J Am Soc Nephrol. 2022 Nov;17(11):1697-1706. doi: https://doi.org/10.2215/CJN.03120322. Epub 2022 Jun 8. Erratum in: Clin J Am Soc Nephrol. 2023 Apr 1;18(4):511.
Oka M, Nozu K, Kaito H, Fu XJ, Nakanishi K, Hashimura Y, et al. Natural history of genetically proven autosomal recessive Alport syndrome. Pediatr Nephrol. 2014 Sep;29(9):1535-44. doi: https://doi.org/10.1007/s00467-014-2797-4.
Gross O, Tönshoff B, Weber LT, Pape L, Latta K, Fehrenbach H, et al. A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport's syndrome. Kidney Int. 2020 Jun;97(6):1275-1286. doi: https://doi.org/10.1016/j.kint.2019.12.015.
Gross O, Licht C, Anders HJ, Hoppe B, Beck B, Tönshoff B, et al. Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy. Kidney Int. 2012 Mar;81(5):494-501. doi: https://doi.org/10.1038/ki.2011.407.
Zeng M, Di H, Liang J, Liu Z. Effectiveness of renin-angiotensin-aldosterone system blockers in patients with Alport syndrome: a systematic review and meta-analysis. Nephrol Dial Transplant. 2023 Oct 31;38(11):2485-2493. doi: https://doi.org/10.1093/ndt/gfad105.
Kashtan CE, Gross O. Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020. Pediatr Nephrol. 2021 Mar;36(3):711-719. doi: https://doi.org/10.1007/s00467-020-04819-6. Epub 2020 Nov 6. Erratum in: Pediatr Nephrol. 2021 Jan 12.
Rheault MN, Savige J, Randles MJ, Weinstock A, Stepney M, Turner AN, et al. The importance of clinician, patient and researcher collaborations in Alport syndrome. Pediatr Nephrol. 2020 May;35(5):733-742. doi: https://doi.org/10.1007/s00467-019-04241-7.
Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, Mari F, et al. Guidelines for Genetic Testing and Management of Alport Syndrome. Clin J Am Soc Nephrol. 2022 Jan;17(1):143-154. doi: https://doi.org/10.2215/CJN.04230321. Epub 2021 Dec 20. Erratum in: Clin J Am Soc Nephrol. 2023 Apr 1;18(4):510.
Watson AR, Harden PN, Ferris ME, Kerr PG, Mahan JD, Ramzy MF, et al. Transition from pediatric to adult renal services: a consensus statement by the International Society of Nephrology (ISN) and the International Pediatric Nephrology Association (IPNA). Kidney Int. 2011 Oct;80(7):704-7. doi: https://doi.org/10.1038/ki.2011.209.
Scarponi D, Cangini G, Pasini A, La Scola C, Mencarelli F, Bertulli C, et al. The process of transition from pediatric to adult healthcare services for nephrological patients: Recommendations vs. reality-A single center experience. Front Pediatr. 2022 Aug 23;10:954641. doi: https://doi.org/10.3389/fped.2022.954641.
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Direitos de Autor (c) 2024 Ana Marta Gomes, Idalina Beirão
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