Spinal Stenosis and Thoracolumbar Kyphosis in Achondroplasia
Achondroplasia (ACH) is a rare autosomal-dominant genetic disease resulting from a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene. It is characterized by asymmetric short stature. Spinal stenosis and thoracolumbar kyphosis (TLK) are common findings in ACH patients. Severe TLK can e...
| Main Authors: | , |
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| Format: | Article |
| Language: | zho |
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Editorial Office of Journal of Rare Diseases
2023-10-01
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| Series: | 罕见病研究 |
| Subjects: | |
| Online Access: | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.04.004 |
| _version_ | 1797370243913351168 |
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| author | LIU Fuze WANG Hai |
| author_facet | LIU Fuze WANG Hai |
| author_sort | LIU Fuze |
| collection | DOAJ |
| description | Achondroplasia (ACH) is a rare autosomal-dominant genetic disease resulting from a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene. It is characterized by asymmetric short stature. Spinal stenosis and thoracolumbar kyphosis (TLK) are common findings in ACH patients. Severe TLK can exacerbate spinal stenosis, leading to neurological complications. This paper provides a brief review of the pathophysiological mechanisms, clinical characteristics, and treatments for spinal stenosis and TLK in ACH patients. Recently, three new drugs targeting FGFR3; vosoritide, recifercept, and infigratinib, have completed or are undergoing clinical trials. They have shown promising preliminary results in preventing spinal stenosis and TLK. |
| first_indexed | 2024-03-08T17:58:36Z |
| format | Article |
| id | doaj.art-c0f2fcceaa624ddbbf87c287cd4fb951 |
| institution | Directory Open Access Journal |
| issn | 2097-0501 |
| language | zho |
| last_indexed | 2024-03-08T17:58:36Z |
| publishDate | 2023-10-01 |
| publisher | Editorial Office of Journal of Rare Diseases |
| record_format | Article |
| series | 罕见病研究 |
| spelling | doaj.art-c0f2fcceaa624ddbbf87c287cd4fb9512024-01-02T03:18:14ZzhoEditorial Office of Journal of Rare Diseases罕见病研究2097-05012023-10-012448349110.12376/j.issn.2097-0501.2023.04.004Spinal Stenosis and Thoracolumbar Kyphosis in AchondroplasiaLIU FuzeWANG HaiAchondroplasia (ACH) is a rare autosomal-dominant genetic disease resulting from a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene. It is characterized by asymmetric short stature. Spinal stenosis and thoracolumbar kyphosis (TLK) are common findings in ACH patients. Severe TLK can exacerbate spinal stenosis, leading to neurological complications. This paper provides a brief review of the pathophysiological mechanisms, clinical characteristics, and treatments for spinal stenosis and TLK in ACH patients. Recently, three new drugs targeting FGFR3; vosoritide, recifercept, and infigratinib, have completed or are undergoing clinical trials. They have shown promising preliminary results in preventing spinal stenosis and TLK.https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.04.004spinal stenosisthoracolumbar kyphosisachondroplasiafibroblast growth factor receptor-3 |
| spellingShingle | LIU Fuze WANG Hai Spinal Stenosis and Thoracolumbar Kyphosis in Achondroplasia 罕见病研究 spinal stenosis thoracolumbar kyphosis achondroplasia fibroblast growth factor receptor-3 |
| title | Spinal Stenosis and Thoracolumbar Kyphosis in Achondroplasia |
| title_full | Spinal Stenosis and Thoracolumbar Kyphosis in Achondroplasia |
| title_fullStr | Spinal Stenosis and Thoracolumbar Kyphosis in Achondroplasia |
| title_full_unstemmed | Spinal Stenosis and Thoracolumbar Kyphosis in Achondroplasia |
| title_short | Spinal Stenosis and Thoracolumbar Kyphosis in Achondroplasia |
| title_sort | spinal stenosis and thoracolumbar kyphosis in achondroplasia |
| topic | spinal stenosis thoracolumbar kyphosis achondroplasia fibroblast growth factor receptor-3 |
| url | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.04.004 |
| work_keys_str_mv | AT liufuze spinalstenosisandthoracolumbarkyphosisinachondroplasia AT wanghai spinalstenosisandthoracolumbarkyphosisinachondroplasia |