A Case Report of Multidisciplinary Management of a Patient with Schimke Immuno-Osseous Dysplasia
Schimke immuno-osseous dysplasia (SIOD)caused by SMARCAL1 gene mutations is a rare genetic disorder characterized by multi-system involvement, including T-cell dysfunction, skeletal dysplasia, disproportionate short stature, nephrotic syndrome, and kidney failure. This multidisciplinary consultation...
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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.2097-0501.2024.04.009 |
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| author | DING Juan WANG Wei XIAO Juan ZHANG Yan ZHU Huijuan ZHANG Wen GAO Peng CHEN Limeng LYU Wei ZOU Xuan ZHAO Xiaoyi SONG Hongmei MA Mingsheng |
| author_facet | DING Juan WANG Wei XIAO Juan ZHANG Yan ZHU Huijuan ZHANG Wen GAO Peng CHEN Limeng LYU Wei ZOU Xuan ZHAO Xiaoyi SONG Hongmei MA Mingsheng |
| author_sort | DING Juan |
| collection | DOAJ |
| description | Schimke immuno-osseous dysplasia (SIOD)caused by SMARCAL1 gene mutations is a rare genetic disorder characterized by multi-system involvement, including T-cell dysfunction, skeletal dysplasia, disproportionate short stature, nephrotic syndrome, and kidney failure. This multidisciplinary consultation involved a 9-year-old boy with intrauterine growth retardation, presenting with short stature, T-cell lymphopenia, proteinuria, and degenerative bone and joint disease. Treatment primarily focused on symptomatic and supportive care. Through the multidisciplinary rare disease consultation, holistic support was provided to the patient, offering comprehensive care from various specialtiesx.We also aim to use this case report to enhance clinicians′ under-standing of SIOD and improve the management and treatment of rare diseases. |
| format | Article |
| id | doaj-art-77247bdf21fd47aa8e421cfdb9924a12 |
| 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-77247bdf21fd47aa8e421cfdb9924a122025-01-08T05:20:33ZzhoEditorial Office of Journal of Rare Diseases罕见病研究2097-05012024-10-013446547010.12376/j.issn.2097-0501.2024.04.009A Case Report of Multidisciplinary Management of a Patient with Schimke Immuno-Osseous DysplasiaDING Juan0WANG Wei1XIAO Juan2ZHANG Yan3ZHU Huijuan4ZHANG Wen5GAO Peng6CHEN Limeng7LYU Wei8ZOU Xuan9ZHAO Xiaoyi10SONG Hongmei11MA Mingsheng12Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Rheumatology and Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Orthopedics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Nephrology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Infectious Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Rehabilitation Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaSchimke immuno-osseous dysplasia (SIOD)caused by SMARCAL1 gene mutations is a rare genetic disorder characterized by multi-system involvement, including T-cell dysfunction, skeletal dysplasia, disproportionate short stature, nephrotic syndrome, and kidney failure. This multidisciplinary consultation involved a 9-year-old boy with intrauterine growth retardation, presenting with short stature, T-cell lymphopenia, proteinuria, and degenerative bone and joint disease. Treatment primarily focused on symptomatic and supportive care. Through the multidisciplinary rare disease consultation, holistic support was provided to the patient, offering comprehensive care from various specialtiesx.We also aim to use this case report to enhance clinicians′ under-standing of SIOD and improve the management and treatment of rare diseases.https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.009schimke immuno-osseous dysplasiashort statureimmunodeficiencyosteodysplasianephropathy |
| spellingShingle | DING Juan WANG Wei XIAO Juan ZHANG Yan ZHU Huijuan ZHANG Wen GAO Peng CHEN Limeng LYU Wei ZOU Xuan ZHAO Xiaoyi SONG Hongmei MA Mingsheng A Case Report of Multidisciplinary Management of a Patient with Schimke Immuno-Osseous Dysplasia 罕见病研究 schimke immuno-osseous dysplasia short stature immunodeficiency osteodysplasia nephropathy |
| title | A Case Report of Multidisciplinary Management of a Patient with Schimke Immuno-Osseous Dysplasia |
| title_full | A Case Report of Multidisciplinary Management of a Patient with Schimke Immuno-Osseous Dysplasia |
| title_fullStr | A Case Report of Multidisciplinary Management of a Patient with Schimke Immuno-Osseous Dysplasia |
| title_full_unstemmed | A Case Report of Multidisciplinary Management of a Patient with Schimke Immuno-Osseous Dysplasia |
| title_short | A Case Report of Multidisciplinary Management of a Patient with Schimke Immuno-Osseous Dysplasia |
| title_sort | case report of multidisciplinary management of a patient with schimke immuno osseous dysplasia |
| topic | schimke immuno-osseous dysplasia short stature immunodeficiency osteodysplasia nephropathy |
| url | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.009 |
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