Clinical features and management of atypical hemolytic uremic syndrome patient with DGKE gene variants: a case report
BackgroundAtypical hemolytic uremic syndrome (aHUS) with diacylglycerol kinase epsilon (DGKE) gene variant is a rare variant of thrombotic microangiopathy (TMA). The information on the clinical features, management and long-term outcomes of DGKE-aHUS patients have not yet been fully elucidated. The...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-06-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2023.1162974/full |
| _version_ | 1797792289659027456 |
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| author | Xiaomei Dai Yu Ma Qiang Lin Hanyun Tang Ruyue Chen Yun Zhu Yunyan Shen Ningxun Cui Zhongqin Hong Yanhong Li Yanhong Li Xiaozhong Li |
| author_facet | Xiaomei Dai Yu Ma Qiang Lin Hanyun Tang Ruyue Chen Yun Zhu Yunyan Shen Ningxun Cui Zhongqin Hong Yanhong Li Yanhong Li Xiaozhong Li |
| author_sort | Xiaomei Dai |
| collection | DOAJ |
| description | BackgroundAtypical hemolytic uremic syndrome (aHUS) with diacylglycerol kinase epsilon (DGKE) gene variant is a rare variant of thrombotic microangiopathy (TMA). The information on the clinical features, management and long-term outcomes of DGKE-aHUS patients have not yet been fully elucidated. The aim of this study was to report a novel variant of the DGKE gene in a Chinese population with aHUS.Case presentationThe present work reports a 7-month-old boy with aHUS, possibly triggered by gastrointestinal infection, without complement activation, with little response to plasma therapy and nephroprotective measures. The patient died during the 8th week of his hospital stay. The causes of death were intracranial hemorrhage and multiorgan dysfunction. Comprehensive WES of peripheral blood-derived DNA revealed two heterozygous variations in the DGKE exon region: NM_003647.2, c.610dup, p.Thr204Asnfs*4 and deletion of exons 4–6.ConclusionsThis case suggest that atypical HUS with DGKE gene variant has a poor prognosis with a high mortality rate, which typically manifests in the first year of life and presents as a systemic disease with early-onset HUS with rapidly worsening renal function and chronic proteinuria. There is no specific treatment for DGKE-aHUS. There have an uncertain benefit of plasma therapy for DGKE-aHUS patients. The literature demonstrated that anti-complement therapy showed benefits for DGKE-aHUS with complement activation and autoantibodies during the overt TMA presentation but did not prevent TMA relapses. Early diagnosis and treatment may prevent complications and improve prognosis. |
| first_indexed | 2024-03-13T02:31:03Z |
| format | Article |
| id | doaj.art-5785e20e001a4630b21e18c26cc637f9 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-03-13T02:31:03Z |
| publishDate | 2023-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-5785e20e001a4630b21e18c26cc637f92023-06-29T17:12:19ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602023-06-011110.3389/fped.2023.11629741162974Clinical features and management of atypical hemolytic uremic syndrome patient with DGKE gene variants: a case reportXiaomei Dai0Yu Ma1Qiang Lin2Hanyun Tang3Ruyue Chen4Yun Zhu5Yunyan Shen6Ningxun Cui7Zhongqin Hong8Yanhong Li9Yanhong Li10Xiaozhong Li11Department of Nephrology and Immunology, Children’s Hospital of Soochow University, Suzhou, ChinaDepartment of Respiratory Medicine, Children’s Hospital of Soochow University, Suzhou, ChinaDepartment of Nephrology and Immunology, Children’s Hospital of Soochow University, Suzhou, ChinaDepartment of Nephrology and Immunology, Children’s Hospital of Soochow University, Suzhou, ChinaDepartment of Nephrology and Immunology, Children’s Hospital of Soochow University, Suzhou, ChinaDepartment of Nephrology and Immunology, Children’s Hospital of Soochow University, Suzhou, ChinaDepartment of Nephrology and Immunology, Children’s Hospital of Soochow University, Suzhou, ChinaDepartment of Nephrology and Immunology, Children’s Hospital of Soochow University, Suzhou, ChinaDepartment of Nephrology and Immunology, Children’s Hospital of Soochow University, Suzhou, ChinaDepartment of Nephrology and Immunology, Children’s Hospital of Soochow University, Suzhou, ChinaInstitute of Pediatric Research, Children's Hospital of Soochow University, Suzhou, ChinaDepartment of Nephrology and Immunology, Children’s Hospital of Soochow University, Suzhou, ChinaBackgroundAtypical hemolytic uremic syndrome (aHUS) with diacylglycerol kinase epsilon (DGKE) gene variant is a rare variant of thrombotic microangiopathy (TMA). The information on the clinical features, management and long-term outcomes of DGKE-aHUS patients have not yet been fully elucidated. The aim of this study was to report a novel variant of the DGKE gene in a Chinese population with aHUS.Case presentationThe present work reports a 7-month-old boy with aHUS, possibly triggered by gastrointestinal infection, without complement activation, with little response to plasma therapy and nephroprotective measures. The patient died during the 8th week of his hospital stay. The causes of death were intracranial hemorrhage and multiorgan dysfunction. Comprehensive WES of peripheral blood-derived DNA revealed two heterozygous variations in the DGKE exon region: NM_003647.2, c.610dup, p.Thr204Asnfs*4 and deletion of exons 4–6.ConclusionsThis case suggest that atypical HUS with DGKE gene variant has a poor prognosis with a high mortality rate, which typically manifests in the first year of life and presents as a systemic disease with early-onset HUS with rapidly worsening renal function and chronic proteinuria. There is no specific treatment for DGKE-aHUS. There have an uncertain benefit of plasma therapy for DGKE-aHUS patients. The literature demonstrated that anti-complement therapy showed benefits for DGKE-aHUS with complement activation and autoantibodies during the overt TMA presentation but did not prevent TMA relapses. Early diagnosis and treatment may prevent complications and improve prognosis.https://www.frontiersin.org/articles/10.3389/fped.2023.1162974/fullatypical hemolytic uremic syndromeDGKE geneTMAplasma therapychronic kidney disease (CKD) |
| spellingShingle | Xiaomei Dai Yu Ma Qiang Lin Hanyun Tang Ruyue Chen Yun Zhu Yunyan Shen Ningxun Cui Zhongqin Hong Yanhong Li Yanhong Li Xiaozhong Li Clinical features and management of atypical hemolytic uremic syndrome patient with DGKE gene variants: a case report Frontiers in Pediatrics atypical hemolytic uremic syndrome DGKE gene TMA plasma therapy chronic kidney disease (CKD) |
| title | Clinical features and management of atypical hemolytic uremic syndrome patient with DGKE gene variants: a case report |
| title_full | Clinical features and management of atypical hemolytic uremic syndrome patient with DGKE gene variants: a case report |
| title_fullStr | Clinical features and management of atypical hemolytic uremic syndrome patient with DGKE gene variants: a case report |
| title_full_unstemmed | Clinical features and management of atypical hemolytic uremic syndrome patient with DGKE gene variants: a case report |
| title_short | Clinical features and management of atypical hemolytic uremic syndrome patient with DGKE gene variants: a case report |
| title_sort | clinical features and management of atypical hemolytic uremic syndrome patient with dgke gene variants a case report |
| topic | atypical hemolytic uremic syndrome DGKE gene TMA plasma therapy chronic kidney disease (CKD) |
| url | https://www.frontiersin.org/articles/10.3389/fped.2023.1162974/full |
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