A Clinical Case of Atypical Hemolytic Uremic Syndrome in Remission: A Step Towards Personalized Treatment
DOI:
https://doi.org/10.71749/pkj.100Keywords:
Acute Kidney Injury, Atypical Hemolytic Uremic Syndrome, Eculizumab, Precision MedicineAbstract
Atypical hemolytic uremic syndrome (aHUS) is a rare, complement‑mediated thrombotic microangiopathy requiring early recognition and treatment. We present the case of a 57‑year‑old woman with aHUS triggered by a diarrheal illness, who developed acute kidney injury and hematological abnormalities.
Eculizumab was initiated within 48 hours, alongside plasma exchange. The patient achieved hematologic remission within two weeks and recovered renal function within one month. Genetic testing revealed no pathogenic variants in complement‑related genes. Based on clinical stability and genetic findings, eculizumab was discontinued after six months. At the 12‑month follow‑up, the patient remained in remission with preserved renal function. This case supports the safety of eculizumab withdrawal in genetically negative aHUS under close monitoring.
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Verigeri K, Kadatane S, Mongan K, Boyer O, Burke LL, Sethi SK, et al. Atypical hemolytic-uremic syndrome: genetic basis, clinical manifestations, and a multidisciplinary approach to management. J Multidiscip Healthc. 2023;16:2233-2249. doi: 10.2147/JMDH.S245620.
Zhang K, Lu Y, Harley KT, Tran MH. Atypical Hemolytic Uremic Syndrome: A Brief Review. Hematol Rep. 2017; 9:7053. doi: 10.4081/hr.2017.7053
Noris M, Remuzzi G. Atypical hemolytic-uremic syndrome. N Engl J Med. 2009;361:1676-87. doi: 10.1056/NEJMra0902814.
Jokiranta TS. HUS and atypical HUS. Blood. 2017;129:2847-56. doi: 10.1182/blood-2016-11-709865.
Noris M, Bresin E, Mele C, Remuzzi G. Genetic Atypical Hemolytic-Uremic Syndrome. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle: University of Washington, Seattle; 2025.
Brocklebank V, Kumar G, Howie AJ, Chandar J, Milford DV, Craze J, et al. Long-term outcomes and response to treatment in diacylglycerol kinase epsilon nephropathy. Kidney Int. 2020;97:1260-74. doi: 10.1016/j.kint.2020.01.045.
Yu XJ, Yu F, Song D, Wang SX, Song Y, Liu G, et al. Clinical and renal biopsy findings predicting outcome in renal thrombotic microangiopathy: a large cohort study from a single institute in China. ScientificWorldJournal. 2014;2014:680502. doi: 10.1155/2014/680502.
Fakhouri F, Fila M, Hummel A, Ribes D, Sellier-Lecher AL, Ville S, et al. Eculizumab discontinuation in children and adults with atypical hemolytic-uremic syndrome: a prospective multicenter study. Blood. 2021;137:2438-49. doi: 10.1182/blood.2020009280.
Rafiq A, Tariq H, Abbas N, Shenoy R. Atypical hemolytic-uremic syndrome: a case report and literature review. Am J Case Rep. 2015;16:109-14. doi:10.12659/AJCR.892907.
Legendre CM, Licht C, Muus P, Greenbaum LA, Babu S, Bedrosian C, et al. Terminal complement inhibitor eculizumab in atypical hemolytic-uremic syndrome. N Engl J Med. 2013;368:2169-81. doi: 10.1056/NEIMoa1208981.
Menne J, Delmas Y, Fakhouri F, Licht C, Lommelé Á, Minetti EE, et al. Outcomes in patients with atypical hemolytic uremic syndrome treated with eculizumab in a long-term observational study. BMC Nephrol. 2019;20:125. doi: 10.1186/s12882-019-1314-1.
Bozio CH, Isenhour C, McNamara LA. Characteristics of and meningococcal disease prevention strategies for commercially insured persons receiving eculizumab in the United States. PLoS One. 2020;15:e0241989. doi: 10.1371/journal.pone.0241989.
Zhang Z, Liu X, Zhang J, Zhang B. Real-world safety profile of eculizumab: an analysis of FDA adverse event reporting system and systematic review of case reports. Expert Opin Drug Saf. 2025;24:1157-63. doi: 10.1080/14740338.2024.2392885.
Wang XF, Bao LR, Hu TL, Xu RF, Gao WN, Wang JY, et al. Adverse drug events (ADEs) risk signal mining related to eculizumab based on the FARES database. Front Pharmacol. 2025;15:1440907. doi: 10.3389/fphar.2024.1440907. Erratum in: Front Pharmacol. 2025;16:1558930. doi: 10.3389/fphar.2025.1558930.
Jiang A, Liu Y, Wei C, Xiao G. Incidence of infection associated with eculizumab: a meta-analysis of 9 randomized controlled trials. Front Pharmacol. 2025;16:1538563. doi: 10.3389/fphar.2025.1538563.
Orozco-Leal G, Vale L, Oluboyede Y, Brocklebank V, Bryant A, Chadwick T, et al. Cost-effectiveness of lifelong eculizumab versus disease monitoring of aHUS. Nephrol Dial Transplant. 2025;gfa1166. doi: 10.1093/ndt/gfa1166.
Bouwmeester NN, Duineveld C, Wijnsma KL, Bernelman FJ, van der Heijden JW, van Wijk JA, et al. Early Eculizumab Withdrawal in Patients With Atypical Hemolytic Uremic Syndrome in Native Kidneys is Safe and Cost-Effective: Results of the CUREIHUS Study. Kidney Int Rep. 2022;8:91-102. doi: 10.1016/j.ekir.2022.10.013.
Brambilla M, Ardissino G, Paglialonga F, Testa S, Capone V, Montini G. Haemoglobinuria for the early identification of aHUS relapse: data from the Italkid-HUS Network. J Nephrol. 2022;35:279-84. doi: 10.1007/s40620-021-00965-8.
Scheinberg P, Clé DV, Kim JS, Nur E, Yenerel MN, Barcellini W, et al. Phase 3 randomized COMMODORE 1 trial: Crovalimab versus eculizumab in complement inhibitor-experienced patients with paroxysmal nocturnal hemoglobinuria. Am J Hematol. 2024;99:1757-67. doi: 10.1002/ajh.27413.
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Copyright (c) 2025 Ligia Ribeiro, Micael Pompermayer, Joana Coutinho, Rui Alves Filipe, Catarina Santos
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