Spinal Stenosis and Thoracolumbar Kyphosis in Achondroplasia

VernacularTitle:软骨发育不全中的椎管狭窄和胸腰椎后凸
Author: Fuze LIU ^{1
,

2} ; Hai WANG ^{1
,

2}
Author Information

1. Department of Orthopaedic Surgery, Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Key Laboratory of Big Data for Spinal Deformities, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
2. Peking Union Medical College, Beijing 100730, China.
Publication Type:Journal Article
Keywords: spinal stenosis; thoracolumbar kyphosis; achondroplasia; fibroblast growth factor receptor-3
From: JOURNAL OF RARE DISEASES 2023;2(4):483-491
CountryChina
Language:Chinese
Abstract: 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.