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Case Report: A Rare Case of Thrombotic Microangiopathy Induced by Remethylation Disorders
In this research, we described a very rare case of thrombotic microangiopathy induced by remethylation disorders. A 16-year-old boy presented to the emergency department with 5 months of weakness and fatigue. He was diagnosed with thrombotic microangiopathy based on clinical manifestation and labora...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8924285/ https://www.ncbi.nlm.nih.gov/pubmed/35308551 http://dx.doi.org/10.3389/fmed.2022.837253 |
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author | Pang, Lu Chen, Jian Yu, Haiyan Huang, Haiming Jin, Bo Wang, Xin Li, Haixia |
author_facet | Pang, Lu Chen, Jian Yu, Haiyan Huang, Haiming Jin, Bo Wang, Xin Li, Haixia |
author_sort | Pang, Lu |
collection | PubMed |
description | In this research, we described a very rare case of thrombotic microangiopathy induced by remethylation disorders. A 16-year-old boy presented to the emergency department with 5 months of weakness and fatigue. He was diagnosed with thrombotic microangiopathy based on clinical manifestation and laboratory information, which showed microangiopathic hemolytic anemia, renal impairment, and thrombocytopenia. After a complex diagnostic workup, the metabolite screening parameters and sequencing results guided us toward the diagnosis of remethylation disorders. The patient was diagnosed with thrombotic microangiopathy induced by remethylation disorders (cblC). |
format | Online Article Text |
id | pubmed-8924285 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-89242852022-03-17 Case Report: A Rare Case of Thrombotic Microangiopathy Induced by Remethylation Disorders Pang, Lu Chen, Jian Yu, Haiyan Huang, Haiming Jin, Bo Wang, Xin Li, Haixia Front Med (Lausanne) Medicine In this research, we described a very rare case of thrombotic microangiopathy induced by remethylation disorders. A 16-year-old boy presented to the emergency department with 5 months of weakness and fatigue. He was diagnosed with thrombotic microangiopathy based on clinical manifestation and laboratory information, which showed microangiopathic hemolytic anemia, renal impairment, and thrombocytopenia. After a complex diagnostic workup, the metabolite screening parameters and sequencing results guided us toward the diagnosis of remethylation disorders. The patient was diagnosed with thrombotic microangiopathy induced by remethylation disorders (cblC). Frontiers Media S.A. 2022-03-02 /pmc/articles/PMC8924285/ /pubmed/35308551 http://dx.doi.org/10.3389/fmed.2022.837253 Text en Copyright © 2022 Pang, Chen, Yu, Huang, Jin, Wang and Li. https://creativecommons.org/licenses/by/4.0/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) and the copyright owner(s) 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. |
spellingShingle | Medicine Pang, Lu Chen, Jian Yu, Haiyan Huang, Haiming Jin, Bo Wang, Xin Li, Haixia Case Report: A Rare Case of Thrombotic Microangiopathy Induced by Remethylation Disorders |
title | Case Report: A Rare Case of Thrombotic Microangiopathy Induced by Remethylation Disorders |
title_full | Case Report: A Rare Case of Thrombotic Microangiopathy Induced by Remethylation Disorders |
title_fullStr | Case Report: A Rare Case of Thrombotic Microangiopathy Induced by Remethylation Disorders |
title_full_unstemmed | Case Report: A Rare Case of Thrombotic Microangiopathy Induced by Remethylation Disorders |
title_short | Case Report: A Rare Case of Thrombotic Microangiopathy Induced by Remethylation Disorders |
title_sort | case report: a rare case of thrombotic microangiopathy induced by remethylation disorders |
topic | Medicine |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8924285/ https://www.ncbi.nlm.nih.gov/pubmed/35308551 http://dx.doi.org/10.3389/fmed.2022.837253 |
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