Clinical Analysis of Four Patients with Schimke Immuno-Osseous Dysplasia and a Literature Review
ObjectiveTo have better clinical understanding of Schimke immuno-osseous dysplasia(SIOD) through analyzing the clinical features, treatment, and prognosis of four patients with SIOD.MethodsWe used retrospective analysis to analyze the clinical data of four patients who were diagnosed with SIOD at th...
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| Format: | Article |
| Language: | zho |
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Editorial Office of Journal of Rare Diseases
2024-10-01
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| Series: | 罕见病研究 |
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| Online Access: | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.006 |
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| author | HAN Lingli DONG Yajuan SUN Bijun WANG Wenjie ZHOU Qinhua LIU Luyao HOU Jia WANG Xiaochuan SUN Jinqiao |
| author_facet | HAN Lingli DONG Yajuan SUN Bijun WANG Wenjie ZHOU Qinhua LIU Luyao HOU Jia WANG Xiaochuan SUN Jinqiao |
| author_sort | HAN Lingli |
| collection | DOAJ |
| description | ObjectiveTo have better clinical understanding of Schimke immuno-osseous dysplasia(SIOD) through analyzing the clinical features, treatment, and prognosis of four patients with SIOD.MethodsWe used retrospective analysis to analyze the clinical data of four patients who were diagnosed with SIOD at the Children′ hospital of Fudan University from May 2018 to June 2024.ResultsThe onset of disease of the four patients of this study was in their early childhood or preschool. All four patients had lymphopenia. Two patients had proteinuria, and one patient has progressed to chronic renal failure. One patient presented with short stature. The treatment for the four patients was mainly by symptomatic supportive therapy and on prevention and delay of renal failure disease.ConclusionsThe patients with SIOD have different onset symptoms and progression of the disease.The treatment has not yet completely cured the disease. The clinical diagnosis and treatment of SIOD remains a challenge and needs further investigating. |
| format | Article |
| id | doaj-art-8ae95f76fc3d4107a98fd9b735015a07 |
| institution | Kabale University |
| issn | 2097-0501 |
| language | zho |
| publishDate | 2024-10-01 |
| publisher | Editorial Office of Journal of Rare Diseases |
| record_format | Article |
| series | 罕见病研究 |
| spelling | doaj-art-8ae95f76fc3d4107a98fd9b735015a072025-01-08T05:19:37ZzhoEditorial Office of Journal of Rare Diseases罕见病研究2097-05012024-10-013444645210.12376/j.issn.2097-0501.2024.04.006Clinical Analysis of Four Patients with Schimke Immuno-Osseous Dysplasia and a Literature ReviewHAN LingliDONG YajuanSUN Bijun0WANG Wenjie1ZHOU Qinhua2LIU Luyao3HOU Jia4WANG Xiaochuan5SUN Jinqiao6Department of Clinical Immunology and Allergy, National Children′s Medical Center, Children′s Hospital of Fudan University, Shanghai 201102, ChinaDepartment of Clinical Immunology and Allergy, National Children′s Medical Center, Children′s Hospital of Fudan University, Shanghai 201102, ChinaDepartment of Clinical Immunology and Allergy, National Children′s Medical Center, Children′s Hospital of Fudan University, Shanghai 201102, ChinaDepartment of Clinical Immunology and Allergy, National Children′s Medical Center, Children′s Hospital of Fudan University, Shanghai 201102, ChinaDepartment of Clinical Immunology and Allergy, National Children′s Medical Center, Children′s Hospital of Fudan University, Shanghai 201102, ChinaDepartment of Clinical Immunology and Allergy, National Children′s Medical Center, Children′s Hospital of Fudan University, Shanghai 201102, ChinaDepartment of Clinical Immunology and Allergy, National Children′s Medical Center, Children′s Hospital of Fudan University, Shanghai 201102, ChinaObjectiveTo have better clinical understanding of Schimke immuno-osseous dysplasia(SIOD) through analyzing the clinical features, treatment, and prognosis of four patients with SIOD.MethodsWe used retrospective analysis to analyze the clinical data of four patients who were diagnosed with SIOD at the Children′ hospital of Fudan University from May 2018 to June 2024.ResultsThe onset of disease of the four patients of this study was in their early childhood or preschool. All four patients had lymphopenia. Two patients had proteinuria, and one patient has progressed to chronic renal failure. One patient presented with short stature. The treatment for the four patients was mainly by symptomatic supportive therapy and on prevention and delay of renal failure disease.ConclusionsThe patients with SIOD have different onset symptoms and progression of the disease.The treatment has not yet completely cured the disease. The clinical diagnosis and treatment of SIOD remains a challenge and needs further investigating.https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.006schimke immuno-osseous dysplasiaclinical characterizationsmarcal1 gene |
| spellingShingle | HAN Lingli DONG Yajuan SUN Bijun WANG Wenjie ZHOU Qinhua LIU Luyao HOU Jia WANG Xiaochuan SUN Jinqiao Clinical Analysis of Four Patients with Schimke Immuno-Osseous Dysplasia and a Literature Review 罕见病研究 schimke immuno-osseous dysplasia clinical characterization smarcal1 gene |
| title | Clinical Analysis of Four Patients with Schimke Immuno-Osseous Dysplasia and a Literature Review |
| title_full | Clinical Analysis of Four Patients with Schimke Immuno-Osseous Dysplasia and a Literature Review |
| title_fullStr | Clinical Analysis of Four Patients with Schimke Immuno-Osseous Dysplasia and a Literature Review |
| title_full_unstemmed | Clinical Analysis of Four Patients with Schimke Immuno-Osseous Dysplasia and a Literature Review |
| title_short | Clinical Analysis of Four Patients with Schimke Immuno-Osseous Dysplasia and a Literature Review |
| title_sort | clinical analysis of four patients with schimke immuno osseous dysplasia and a literature review |
| topic | schimke immuno-osseous dysplasia clinical characterization smarcal1 gene |
| url | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.006 |
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