Academic Journal
A case report of atypical hemolytic uremic syndrome with a CFH mutation complicated by recurrent posterior reversible encephalopathy syndrome.
| Τίτλος: | A case report of atypical hemolytic uremic syndrome with a CFH mutation complicated by recurrent posterior reversible encephalopathy syndrome. |
|---|---|
| Συγγραφείς: | Maruyama R; Department of General Internal Medicine, Aizawa Hospital, Nagano, Japan.; Department of Emergency and Critical Care Medicine, Aizawa Hospital, Nagano, Japan., Takeuchi D; Department of General Internal Medicine, Aizawa Hospital, Nagano, Japan., Momose M; Department of General Internal Medicine, Aizawa Hospital, Nagano, Japan., Amemiya T; Department of General Internal Medicine, Aizawa Hospital, Nagano, Japan., Terakawa I; Department of General Internal Medicine, Aizawa Hospital, Nagano, Japan., Teshima K; Department of General Internal Medicine, Aizawa Hospital, Nagano, Japan., Chimura J; Department of Emergency and Critical Care Medicine, Aizawa Hospital, Nagano, Japan., Noju K; Department of Emergency and Critical Care Medicine, Aizawa Hospital, Nagano, Japan., Sugimoto R; Department of Emergency and Critical Care Medicine, Aizawa Hospital, Nagano, Japan., Shiroto K; Department of Emergency and Critical Care Medicine, Aizawa Hospital, Nagano, Japan., Suganuma K; Department of Emergency and Critical Care Medicine, Aizawa Hospital, Nagano, Japan., Yamamoto T; Department of General Internal Medicine, Aizawa Hospital, Nagano, Japan. |
| Πηγή: | Medicine [Medicine (Baltimore)] 2026 Jul 03; Vol. 105 (27), pp. e49593. |
| Τύπος έκδοσης: | Journal Article; Case Reports |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Hagerstown, Md : Lippincott Williams & Wilkins |
| Ιατρικοί όροι (MeSH): | Atypical Hemolytic Uremic Syndrome*/genetics , Atypical Hemolytic Uremic Syndrome*/complications , Atypical Hemolytic Uremic Syndrome*/diagnosis , Atypical Hemolytic Uremic Syndrome*/therapy , Complement Factor H*/genetics , Posterior Leukoencephalopathy Syndrome*/genetics , Posterior Leukoencephalopathy Syndrome*/complications , Posterior Leukoencephalopathy Syndrome*/etiology, Antibodies, Monoclonal, Humanized/therapeutic use ; Humans ; Female ; Adult ; Mutation ; Recurrence |
| Περίληψη: | Rationale: Atypical hemolytic uremic syndrome (aHUS) is a rare thrombotic microangiopathy (TMA) characterized by microangiopathic hemolytic anemia, thrombocytopenia, and organ dysfunction, particularly affecting the kidneys and the central nervous system. It is caused by genetic variants or autoantibodies involved in dysregulation of the complement system. Pathogenic variants of the complement factor H (CFH) gene are associated with severe disease and may lead to life-threatening multiorgan failure during the acute phase. We report a case of CFH mutation-positive aHUS complicated by recurrent posterior reversible encephalopathy syndrome (PRES) during the course of treatment. Patient Concerns: A 32-year-old woman presented with progressive fatigue and acute dyspnea. Laboratory tests revealed hemolytic anemia, thrombocytopenia, and severe acute kidney injury. Diagnoses: A peripheral blood smear revealed schistocytes, consistent with TMA. On hospital day 1, she developed generalized tonic-clonic seizures followed by respiratory arrest that required mechanical ventilation. Continuous hemodialysis was initiated for severe renal failure. After the exclusion of thrombotic thrombocytopenic purpura, typical hemolytic uremic syndrome, and secondary causes of TMA, a clinical diagnosis of aHUS was made. Genetic testing later revealed a pathogenic heterozygous CFH variant (c.3572C>T, p.Ser1191Leu), confirming the diagnosis of aHUS. Interventions: Anti-C5 monoclonal antibody (eculizumab) was initiated based on the clinical diagnosis of aHUS. Intensive care management, including mechanical ventilation, renal replacement therapy, plasma exchange, and strict blood pressure control, was also provided. Outcomes: During the course of the disease, she developed severe cardiomyopathy and recurrent PRES. Early initiation of complement inhibition combined with intensive care management resulted in complete neurological recovery, and the patient was discharged home without any sequelae. Lessons: This case highlights that CFH mutation-positive aHUS can be complicated by severe multiorgan dysfunction, including cardiomyopathy and recurrent PRES. Early clinical recognition and prompt initiation of complement inhibition were central to the favorable outcome, while intensive blood pressure control and comprehensive supportive care may have contributed to neurological recovery. (Copyright © 2026 the Author(s). Published by Wolters Kluwer Health, LLC.) |
| Competing Interests: | The authors have no funding and conflicts of interest to disclose. |
| References: | Sci Rep. 2024 Aug 6;14(1):18265. (PMID: 39107421) Cureus. 2024 Jul 24;16(7):e65274. (PMID: 39184759) BMC Nephrol. 2022 Jan 20;23(1):39. (PMID: 35057750) Ther Apher Dial. 2019 Feb;23(1):4-21. (PMID: 30294946) Front Med (Lausanne). 2014 Dec 12;1:52. (PMID: 25593925) Blood. 2023 Mar 2;141(9):984-995. (PMID: 36322940) J Cell Mol Med. 2008 Aug;12(4):1074-84. (PMID: 18419792) Clin Nephrol. 2014 Nov;82(5):326-31. (PMID: 23557793) Clin Case Rep. 2014 Apr;2(2):57-9. (PMID: 25356245) Hematol Rep. 2018 Sep 24;10(3):7553. (PMID: 30344987) N Engl J Med. 2013 Jun 6;368(23):2169-81. (PMID: 23738544) Intern Med. 2021 Mar 15;60(6):917-922. (PMID: 33087669) J Nephrol. 2017 Feb;30(1):127-134. (PMID: 26995002) Clin J Am Soc Nephrol. 2013 Apr;8(4):554-62. (PMID: 23307876) Balkan J Med Genet. 2021 Jul 27;24(1):81-88. (PMID: 34447663) Clin Exp Nephrol. 2018 Oct;22(5):1088-1099. (PMID: 29511899) |
| Contributed Indexing: | Keywords: atypical hemolytic uremic syndrome; complement inhibition; complement-mediated thrombotic microangiopathy; posterior reversible encephalopathy syndrome |
| Substance Nomenclature: | 80295-65-4 (Complement Factor H) A3ULP0F556 (eculizumab) 0 (CFH protein, human) 0 (Antibodies, Monoclonal, Humanized) |
| Entry Date(s): | Date Created: 20260707 Date Completed: 20260707 Latest Revision: 20260813 |
| Update Code: | 20260814 |
| PubMed Central ID: | PMC13337012 |
| DOI: | 10.1097/MD.0000000000049593 |
| PMID: | 42410819 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 1536-5964 |
|---|---|
| DOI: | 10.1097/MD.0000000000049593 |