CASE REPORT article
Front. Med.
Sec. Hematology
Volume 12 - 2025 | doi: 10.3389/fmed.2025.1553168
This article is part of the Research TopicEndothelium, Innate Immunity and Coagulation in Hematological DisordersView all 13 articles
Paroxysmal Nocturnal Hemoglobinuria masquerading as Hemolytic Uremic Syndrome: A Case Report
Provisionally accepted
- Huzhou Central Hospital, Huzhou, China
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Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired disorder of intravascular hemolysis caused by a somatic mutation in the gene responsible for glycosylphosphatidylinositol (GPI)-anchored complement regulatory proteins. This mutation leads to the production of abnormal blood cell clones lacking CD55 and CD59. PNH can result in renal damage. The challenge of early identification and diagnosis leads to misdiagnosis as other intravascular hemolytic conditions. This paper presents a case that began with fever, diarrhea, and acute renal failure, initially misdiagnosed as atypical hemolytic uremic syndrome (aHUS) but later confirmed as PNH through renal biopsy and related diagnostic tests. After treatment, the patient's renal function recovered, and anemia improved. Intravascular hemolysis is a prominent feature common to both PNH and HUS. They exhibit similar clinical manifestations, which pose a challenge for differential diagnosis. Unlike previous reports, the patient in this case denied any history of hematologic disorders, which made the diagnosis more challenging.
Keywords: Acute Kidney Injury, case report, Hemolytic uremic syndrome, hemosiderin deposition, Misdiagnosis, Paroxysmal nocturnal hemoglobinuria
Received: 04 Apr 2025; Accepted: 15 Jul 2025.
Copyright: © 2025 Gao, Huang, Liu and Yao. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Fuhan Huang, Huzhou Central Hospital, Huzhou, China
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