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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Autores principales:	Yoichi Iwafuchi, Tetsuo Morioka, Yuko Oyama, Shin Goto, Ichiei Narita
Formato:	article
Lenguaje:	EN
Publicado:	Hindawi Limited 2021
Materias:	Diseases of the genitourinary system. Urology RC870-923
Acceso en línea:	https://doaj.org/article/b80004b958a34d0d873da1dbdade9073
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spelling	oai:doaj.org-article:b80004b958a34d0d873da1dbdade90732021-11-08T02:35:14ZComplement Factor H Gene Variant in a Patient with Thrombotic Microangiopathy on a Mixed Clinical Background2090-665X10.1155/2021/2519918https://doaj.org/article/b80004b958a34d0d873da1dbdade90732021-01-01T00:00:00Zhttp://dx.doi.org/10.1155/2021/2519918https://doaj.org/toc/2090-665XWe 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.Yoichi IwafuchiTetsuo MoriokaYuko OyamaShin GotoIchiei NaritaHindawi LimitedarticleDiseases of the genitourinary system. UrologyRC870-923ENCase Reports in Nephrology, Vol 2021 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Diseases of the genitourinary system. Urology RC870-923
spellingShingle	Diseases of the genitourinary system. Urology RC870-923 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
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
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
title	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_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_sort	complement factor h gene variant in a patient with thrombotic microangiopathy on a mixed clinical background
publisher	Hindawi Limited
publishDate	2021
url	https://doaj.org/article/b80004b958a34d0d873da1dbdade9073
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Complement Factor H Gene Variant in a Patient with Thrombotic Microangiopathy on a Mixed Clinical Background

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