Complement Factor H Gene Variant in a Patient with Thrombotic Microangiopathy on a Mixed Clinical Background
We report the case of a patient with complement factor H gene variant, who developed thrombotic microangiopathy on a mixed clinical background. A 79-year-old woman was transferred to Sanjo General Hospital for maintenance hemodialysis. She suffered from gastric non-Hodgkin lymphoma about two years a...
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Wiley
2021-01-01
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| Series: | Case Reports in Nephrology |
| Online Access: | http://dx.doi.org/10.1155/2021/2519918 |
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| author | Yoichi Iwafuchi Tetsuo Morioka Yuko Oyama Shin Goto Ichiei Narita |
| author_facet | Yoichi Iwafuchi Tetsuo Morioka Yuko Oyama Shin Goto Ichiei Narita |
| author_sort | Yoichi Iwafuchi |
| collection | DOAJ |
| description | We report the case of a patient with complement factor H gene variant, who developed thrombotic microangiopathy on a mixed clinical background. A 79-year-old woman was transferred to Sanjo General Hospital for maintenance hemodialysis. She suffered from gastric non-Hodgkin lymphoma about two years ago and received chemotherapy and radiation therapy, leading to complete remission. About 13 weeks prior to her transfer to our hospital, she was referred to another hospital due to acute kidney injury, hemolytic anemia, and thrombocytopenia. Hemodialysis was immediately initiated, after which intravenous methylprednisolone and oral prednisolone were started; however, she became anuric within approximately week. The possibility of thrombotic microangiopathy was examined. However, she was in poor general condition and did not get the consent of her family, so no invasive searches such as a kidney biopsy were performed. Despite the cause of acute kidney insufficiency being unclear, she was transferred to us for maintenance hemodialysis. Her general condition was stable, and her renal function improved; hence, two months after transfer, a kidney biopsy was performed. Her clinical and typical renal histological findings indicated a diagnosis of thrombotic microangiopathy. There was a possible CFH gene of a very rare variant “c.526 T > C (p.Phe176Leu)” in exon 5. She was able to withdraw from hemodialysis therapy two weeks after the initiation of an angiotensin-converting enzyme inhibitor. Based on her clinical course and kidney biopsy findings, she was diagnosed with thrombotic microangiopathy with a very rare CFH variant. To ensure proper treatment choices such as eculizumab, the presence of complement dysregulation should be considered in cases of secondary thrombotic microangiopathy. |
| format | Article |
| id | doaj-art-b80004b958a34d0d873da1dbdade9073 |
| institution | Kabale University |
| issn | 2090-6641 2090-665X |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Nephrology |
| spelling | doaj-art-b80004b958a34d0d873da1dbdade90732025-02-03T01:27:24ZengWileyCase Reports in Nephrology2090-66412090-665X2021-01-01202110.1155/2021/25199182519918Complement Factor H Gene Variant in a Patient with Thrombotic Microangiopathy on a Mixed Clinical BackgroundYoichi Iwafuchi0Tetsuo Morioka1Yuko Oyama2Shin Goto3Ichiei Narita4Department of Internal Medicine, Koseiren Sanjo General Hospital, 5-1-62 Tsukanome, Sanjo 955-0055, JapanDepartment of Internal Medicine, Kidney Center, Shinrakuen Hospital, 3-3-11 Shindoriminami Nishi-ku, Niigata 950-2087, JapanDepartment of Internal Medicine, Koseiren Sanjo General Hospital, 5-1-62 Tsukanome, Sanjo 955-0055, JapanDivision of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, 1-754 Asahinachi-Dori, Niigata 951-8510, JapanDivision of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, 1-754 Asahinachi-Dori, Niigata 951-8510, JapanWe report the case of a patient with complement factor H gene variant, who developed thrombotic microangiopathy on a mixed clinical background. A 79-year-old woman was transferred to Sanjo General Hospital for maintenance hemodialysis. She suffered from gastric non-Hodgkin lymphoma about two years ago and received chemotherapy and radiation therapy, leading to complete remission. About 13 weeks prior to her transfer to our hospital, she was referred to another hospital due to acute kidney injury, hemolytic anemia, and thrombocytopenia. Hemodialysis was immediately initiated, after which intravenous methylprednisolone and oral prednisolone were started; however, she became anuric within approximately week. The possibility of thrombotic microangiopathy was examined. However, she was in poor general condition and did not get the consent of her family, so no invasive searches such as a kidney biopsy were performed. Despite the cause of acute kidney insufficiency being unclear, she was transferred to us for maintenance hemodialysis. Her general condition was stable, and her renal function improved; hence, two months after transfer, a kidney biopsy was performed. Her clinical and typical renal histological findings indicated a diagnosis of thrombotic microangiopathy. There was a possible CFH gene of a very rare variant “c.526 T > C (p.Phe176Leu)” in exon 5. She was able to withdraw from hemodialysis therapy two weeks after the initiation of an angiotensin-converting enzyme inhibitor. Based on her clinical course and kidney biopsy findings, she was diagnosed with thrombotic microangiopathy with a very rare CFH variant. To ensure proper treatment choices such as eculizumab, the presence of complement dysregulation should be considered in cases of secondary thrombotic microangiopathy.http://dx.doi.org/10.1155/2021/2519918 |
| spellingShingle | Yoichi Iwafuchi Tetsuo Morioka Yuko Oyama Shin Goto Ichiei Narita Complement Factor H Gene Variant in a Patient with Thrombotic Microangiopathy on a Mixed Clinical Background Case Reports in Nephrology |
| title | Complement Factor H Gene Variant in a Patient with Thrombotic Microangiopathy on a Mixed Clinical Background |
| title_full | Complement Factor H Gene Variant in a Patient with Thrombotic Microangiopathy on a Mixed Clinical Background |
| title_fullStr | Complement Factor H Gene Variant in a Patient with Thrombotic Microangiopathy on a Mixed Clinical Background |
| title_full_unstemmed | Complement Factor H Gene Variant in a Patient with Thrombotic Microangiopathy on a Mixed Clinical Background |
| title_short | Complement Factor H Gene Variant in a Patient with Thrombotic Microangiopathy on a Mixed Clinical Background |
| title_sort | complement factor h gene variant in a patient with thrombotic microangiopathy on a mixed clinical background |
| url | http://dx.doi.org/10.1155/2021/2519918 |
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