Aggiornamento
Decifrare la bassa statura nei bambini
How to diagnose short stature in children
Francesco Chiarelli, Valeria Castorani, Nella Polidori
Clinica Pediatrica, Università di Chieti
Marzo 2021 - pagg. 159 -166 | DOI: 10.53126/MEB40159
Abstract
Short stature is the most common cause of referral to paediatricians. Only a minority of children with short stature have an underlying pathology. Although well-established diagnostic and management paradigms do exist, recent advances in molecular technologies have significantly improved our understanding of the genetic causes of short stature. Therefore, after the exclusion of nutritional, hormonal, inflammatory or systemic disorders, or skeletal dysplasias and syndromes, genetic causes should be ever supposed and genetic evaluation considered. An appropriate diagnosis of short stature should be performed as early as possible and personalized treatment should be started in a timely manner. Novel treatment approaches have been also proposed both as diagnostic tools and as therapeutic agents to optimize the approach to short stature. Therefore, detailed characterization of children with poor growth is necessary to perform a tailored diagnostic and therapeutic workup with the aim to decipher the causes of short stature better.
Riassunto
La bassa statura è uno dei più frequenti motivi di consultazione del pediatra, tuttavia solo in una minoranza di casi si rintraccia una condizione patologica sottostante. A oggi, sebbene esistano protocolli diagnostici e di management ben strutturati per la gestione del bambino con bassa statura, le recenti scoperte in materia di diagnostica molecolare hanno significativamente migliorato la conoscenza delle cause genetiche di bassa statura. Pertanto, dopo l’esclusione di disordini nutrizionali, ormonali, infiammatori o malattie sistemiche, deve essere sempre sospettata una causa genetica e deve essere sempre considerata una valutazione genetica. Un’appropriata diagnosi di bassa statura deve essere ottenuta nel minor tempo possibile e deve essere tempestivamente intrapreso uno schema di terapia altamente personalizzato. I più recenti approcci terapeutici hanno difatti fornito strumenti diagnostici e percorsi terapeutici per ottimizzare l’approccio al bambino con bassa statura. Una valutazione quanto più dettagliata possibile è indispensabile per ottenere una diagnosi puntuale e una terapia idonea, con l’obiettivo ultimo di decifrare al meglio tutte le possibili cause di bassa statura.
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Corrispondenza: chiarelli@unich.it