Leiva-Gea Antonio, Martos Lirio María F, Barreda Bonis Ana Coral, Marín Del Barrio Silvia, Heath Karen E, Marín Reina Purificacion, Guillén-Navarro Encarna, Santos Simarro Fernando, Riaño Galán Isolina, Yeste Fernández Diego, Leiva-Gea Isabel
UGC Cirugía Ortopédica y Traumatología, Hospital Universitario Virgen de la Victoria, Instituto de Investigación Biomédica de Málaga (IBIMA)-Plataforma Bionand, Málaga, Spain.
Unidad de Endocrinología Pediátrica, Hospital Regional de Málaga, Málaga, Spain.
An Pediatr (Engl Ed). 2022 Dec;97(6):423.e1-423.e11. doi: 10.1016/j.anpede.2022.10.004. Epub 2022 Nov 5.
Achondroplasia requieres multidisciplinary follow-up, with the aim of preventing and managing complications, improving the quality of life of people who suffer from it and favoring their independence and social inclusion. This review is justified by the multiple publications generated in recent years that have carried out a change in its management. Different guidelines and recommendations have been developed, among which the one made by the American Academy of Pediatrics in 2005 recently updated (2020), the Japanese guide (2020), the first European Consensus (2021) and the International Consensus on the diagnosis, approach multidisciplinary approach and management of individuals with achondroplasia throughout life (2021). However, and despite these recommendations, there is currently a great worldwide variability in the management of people with achondroplasia, with medical, functional and psychosocial consequences in patients and their families. Therefore, it is essential to integrate these recommendations into daily clinical practice, taking into account the particular situation of each health system.
软骨发育不全需要多学科随访，目的是预防和处理并发症，改善患者的生活质量，促进其独立和社会融入。近年来产生的众多出版物改变了其管理方式，因此进行本次综述是合理的。已制定了不同的指南和建议，其中包括美国儿科学会2005年制定并于近期（2020年）更新的指南、日本指南（2020年）、首个欧洲共识（2021年）以及关于软骨发育不全患者终生诊断、多学科方法和管理的国际共识（2021年）。然而，尽管有这些建议，但目前全球范围内软骨发育不全患者的管理存在很大差异，给患者及其家庭带来了医疗、功能和心理社会方面的后果。因此，考虑到每个卫生系统的具体情况，将这些建议纳入日常临床实践至关重要。
