P-224: Bone mineral density in pediatric cystic fibrosis during CFTR modulator therapy: influence of glycemic status and genotype
L Trevisan Carvalho, T Altarejo Marin, G da Costa Oliveira, F Faganello Colombo, M Neuenschwander Mendonça, D de Souza Paiva Borgli, J Dirceu Ribeiro, A Fernando Ribeiro, A Cristina Gonçalves, M Alexandre Pascoa, M ZorronAbstract
Introduction
Cystic fibrosis is associated with reduced bone mineral density (BMD), particularly in patients with metabolic disturbances. The effect of highly effective CFTR modulator therapy (HEMT) on bone health in children remains poorly defined.
Objectives
To assess longitudinal changes in BMD in pediatric cystic fibrosis patients treated with elexacaftor/tezacaftor/ivacaftor (ETI), according to glycemic status and genotype.
Methods
Prospective longitudinal study including pediatric patients on ETI with dual-energy X-ray absorptiometry at baseline, 6, and 12 months. Lumbar spine Z-scores were analyzed by glycemic status (prediabetes, cystic fibrosis-related diabetes [CFRD], and indeterminate hyperglycemia) and genotype.
Results
BMD remained stable over time. Z-score changes across glycemic groups were modest and showed no consistent directional pattern. In genotype-based analysis, homozygous patients exhibited a trend toward declining Z-scores, whereas those with residual function mutations showed slight improvement.(A) Glycemic groups.(B) Genotype.
Conclusions
HEMT was associated with stabilization of BMD in pediatric cystic fibrosis. Genotype-specific differences suggest heterogeneous skeletal responses, highlighting the importance of continued longitudinal bone health monitoring.