Disease-specific complications and multidisciplinary interventions in achondroplasia.
J Bone Miner Metab
; 40(2): 189-195, 2022 Mar.
Article
em En
| MEDLINE
| ID: mdl-35028714
Achondroplasia (ACH) is the most common skeletal dysplasia and characterized by a disproportionate short stature, macrocephaly with frontal bossing, exaggerated lumbar lordosis, and trident hands. It is induced by activated mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. In addition to short stature, patients with ACH have a high prevalence of medical complications, including upper airway obstructive apnea, increased mortality, foramen magnum stenosis, hydrocephalus, developmental delay, recurrent ear infections, genu varum, obesity, and spinal canal stenosis, throughout their whole life. Several investigational drugs that modulate abnormal FGFR3 signaling have recently emerged, vosoritide being the most developed. This review presents the different disease-specific complications of ACH occurring in neonates, infants, childhood, adolescent, and adults and reports the current multidisciplinary interventions for these various complications. Moreover, we propose treatment strategies for children with ACH from the perspective of quality of life in adulthood.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Estenose Espinal
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Acondroplasia
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Apneia Obstrutiva do Sono
Tipo de estudo:
Risk_factors_studies
Limite:
Adolescent
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Adult
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Animals
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Child
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Humans
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Infant
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Newborn
Idioma:
En
Revista:
J Bone Miner Metab
Assunto da revista:
METABOLISMO
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Japão