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JOURNAL OF RARE DISEASES
; (4): 483-491, 2023.
Article
de Chinois
| WPRIM
| ID: wpr-1004923
RÉSUMÉ
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.