Division of Endocrinology, Children's National Hospital, Washington, DC 20010, USA; Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA.
Division of Endocrinology, Children's National Hospital, Washington, DC 20010, USA; Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA.
Pediatr Clin North Am. 2023 Oct;70(5):951-961. doi: 10.1016/j.pcl.2023.05.008. Epub 2023 Jul 6.
Achondroplasia is the most common form of disproportionate severe short stature. Management of achondroplasia requires a multidisciplinary approach and has been largely symptomatic for medical complications and psychosocial implications. Increased understanding of genetic and molecular mechanisms of achondroplasia has led to the development of novel disease-modifying drugs. The current drugs under investigation target the growth plate to stimulate chondrocyte growth and development. These include analogs of C-type natriuretic peptide (CNP), FGFR3-selective tyrosine kinase inhibitors, anti-FGFR3 antibodies, aptamers against FGF2, and soluble forms of FGFR3. Long-term data on the effects of these therapies on medical comorbidities are pending at this time.
软骨发育不全是最常见的不成比例的严重身材矮小症。软骨发育不全的管理需要多学科的方法，并且主要针对医疗并发症和社会心理影响进行对症治疗。对软骨发育不全的遗传和分子机制的深入了解导致了新型疾病修饰药物的开发。目前正在研究的药物针对生长板，以刺激软骨细胞的生长和发育。这些药物包括 C 型利钠肽（CNP）类似物、FGFR3 选择性酪氨酸激酶抑制剂、抗 FGFR3 抗体、针对 FGF2 的适体和 FGFR3 的可溶性形式。目前尚不清楚这些治疗方法对医疗合并症的长期影响。
