دورية أكاديمية
Life-Threatening Diffuse Alveolar Hemorrhage and Graft Failure in Atypical Hemolytic Uremic Syndrome with C3 Gene Mutation following Kidney Transplant.
| العنوان: | Life-Threatening Diffuse Alveolar Hemorrhage and Graft Failure in Atypical Hemolytic Uremic Syndrome with C3 Gene Mutation following Kidney Transplant. |
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| المؤلفون: | Song JY; Department of Pediatrics, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Republic of Korea.; Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Republic of Korea., Oh SH; Department of Laboratory Medicine, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Republic of Korea.; Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Republic of Korea., Kim Y; Department of Pediatrics, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Republic of Korea.; Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Republic of Korea. |
| المصدر: | Nephron [Nephron] 2024; Vol. 148 (7), pp. 474-479. Date of Electronic Publication: 2023 Nov 24. |
| نوع المنشور: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Karger Country of Publication: Switzerland NLM ID: 0331777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2235-3186 (Electronic) Linking ISSN: 16608151 NLM ISO Abbreviation: Nephron Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Basel ; New York : Karger |
| مواضيع طبية MeSH: | Kidney Transplantation*/adverse effects , Atypical Hemolytic Uremic Syndrome*/genetics , Mutation* , Complement C3*/genetics , Hemorrhage*/etiology , Hemorrhage*/genetics, Humans ; Female ; Adolescent ; Graft Rejection ; Antibodies, Monoclonal, Humanized/therapeutic use ; Pulmonary Alveoli/pathology ; Lung Diseases/etiology |
| مستخلص: | Introduction: Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) disease entity primarily attributed to genetic or acquired abnormalities in the alternative complement pathway. TMA can manifest in kidney transplant (KT) recipients owing to various factors, resulting in diverse clinical presentations. Given its adverse effects on allograft function and patient prognosis, genetic diagnostic approaches for aHUS are essential. Although rarely associated with diffuse alveolar hemorrhage, only a few mild cases have been reported to date. In this report, we present a case of the patient who experienced recurrent and life-threatening diffuse alveolar hemorrhage shortly after KT accompanied by graft failure. Case Presentation: An 18-year-old girl who underwent deceased donor KT developed recurrent diffuse alveolar hemorrhage with acute kidney injury, leading to graft failure. Microangiopathic hemolytic anemia, thrombocytopenia, and schistocytes in blood smears suggested the presence of TMA. The patient underwent therapeutic plasma exchange, and clinical condition improved during the procedure. Genetic testing confirmed a heterozygous c.1273C>T mutation in C3 gene, leading to the diagnosis of aHUS. However, after discontinuing the plasma exchange, the patient experienced seizures, recurrent pulmonary hemorrhage, and oliguria with recurring TMA features. The patient subsequently underwent eculizumab treatment, which resulted in complete remission, although hemodialysis was continued after graft nephrectomy. Conclusion: In patients presenting with unexplained pulmonary hemorrhage and kidney injury following KT, genetic aHUS should be considered as a potential differential diagnosis for TMA. (© 2023 The Author(s). Published by S. Karger AG, Basel.) |
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| فهرسة مساهمة: | Keywords: Atypical hemolytic uremic syndrome; Diffuse alveolar hemorrhage; Kidney transplantation; Thrombotic microangiopathy |
| المشرفين على المادة: | 0 (Complement C3) 0 (Antibodies, Monoclonal, Humanized) A3ULP0F556 (eculizumab) 0 (C3 protein, human) |
| تواريخ الأحداث: | Date Created: 20231126 Date Completed: 20240702 Latest Revision: 20240723 |
| رمز التحديث: | 20240723 |
| مُعرف محوري في PubMed: | PMC11216361 |
| DOI: | 10.1159/000535192 |
| PMID: | 38008090 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2235-3186 |
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| DOI: | 10.1159/000535192 |