Paroxysmal nocturnal hemoglobinuria masquerading as hemolytic uremic syndrome: a Case Report
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 la...
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Frontiers Media S.A.
2025-07-01
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| Series: | Frontiers in Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2025.1553168/full |
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| author | Menghan Gao Bo Liu Jianping Yao Fuhan Huang |
| author_facet | Menghan Gao Bo Liu Jianping Yao Fuhan Huang |
| author_sort | Menghan Gao |
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| description | 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. |
| format | Article |
| id | doaj-art-221d50081c2e4267bb4fcb3e40128c20 |
| institution | DOAJ |
| issn | 2296-858X |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Medicine |
| spelling | doaj-art-221d50081c2e4267bb4fcb3e40128c202025-08-20T02:46:28ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2025-07-011210.3389/fmed.2025.15531681553168Paroxysmal nocturnal hemoglobinuria masquerading as hemolytic uremic syndrome: a Case ReportMenghan Gao0Bo Liu1Jianping Yao2Fuhan Huang3Department of Nephrology, Huzhou Central Hospital, Fifth School of Clinical Medicine of Zhejiang Chinese Medical University, Affiliated Central Hospital of Huzhou University, Huzhou, Zhejiang, ChinaDepartment of Nephrology, Huzhou Central Hospital, Fifth School of Clinical Medicine of Zhejiang Chinese Medical University, Affiliated Central Hospital of Huzhou University, Huzhou, Zhejiang, ChinaDepartment of Endocrinology, Huzhou Central Hospital, Fifth School of Clinical Medicine of Zhejiang Chinese Medical University, Affiliated Central Hospital of Huzhou University, Huzhou, Zhejiang, ChinaDepartment of Nephrology, Huzhou Central Hospital, Fifth School of Clinical Medicine of Zhejiang Chinese Medical University, Affiliated Central Hospital of Huzhou University, Huzhou, Zhejiang, ChinaParoxysmal 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.https://www.frontiersin.org/articles/10.3389/fmed.2025.1553168/fullacute kidney injurycase reporthemolytic uremic syndromehemosiderin depositionmisdiagnosisparoxysmal nocturnal hemoglobinuria |
| spellingShingle | Menghan Gao Bo Liu Jianping Yao Fuhan Huang Paroxysmal nocturnal hemoglobinuria masquerading as hemolytic uremic syndrome: a Case Report Frontiers in Medicine acute kidney injury case report hemolytic uremic syndrome hemosiderin deposition misdiagnosis paroxysmal nocturnal hemoglobinuria |
| title | Paroxysmal nocturnal hemoglobinuria masquerading as hemolytic uremic syndrome: a Case Report |
| title_full | Paroxysmal nocturnal hemoglobinuria masquerading as hemolytic uremic syndrome: a Case Report |
| title_fullStr | Paroxysmal nocturnal hemoglobinuria masquerading as hemolytic uremic syndrome: a Case Report |
| title_full_unstemmed | Paroxysmal nocturnal hemoglobinuria masquerading as hemolytic uremic syndrome: a Case Report |
| title_short | Paroxysmal nocturnal hemoglobinuria masquerading as hemolytic uremic syndrome: a Case Report |
| title_sort | paroxysmal nocturnal hemoglobinuria masquerading as hemolytic uremic syndrome a case report |
| topic | acute kidney injury case report hemolytic uremic syndrome hemosiderin deposition misdiagnosis paroxysmal nocturnal hemoglobinuria |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2025.1553168/full |
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