ESPE Abstracts (2022) 95 P2-43

ESPE2022 Poster Category 2 Bone, Growth Plate and Mineral Metabolism (21 abstracts)

Clinical-molecular assistance pathway for primary bone fragility: a pediatric monocentric experience

Daniele Tessaris 1 , Federica Gavello 1 , Elisa Bonino 1 , Gerdi Tuli 1 , Patrizia Matarazzo 1 , Silvia Deaglio 2 & Luisa de Sanctis 1

1Pediatric Endocrinology, Regina Margherita Children Hospital, University of Torino, Torino, Italy; 2Clinical Genetics, University of Torino, Torino, Italy

Bone fragility is a more typical condition of old age, linked to physiological aging. In pediatric age, on the contrary, it represents a rare problem, but more often has an underlying primary cause. This condition manifests itself in most cases with recurrent or abnormal fractures and bone deformities, with a limitation of mobility, bone pain and consequent reduction in the quality of life of the child. The great difficulty for the clinician consists in reaching a correct diagnostic classification by moving in a heterogeneous context of possible causes which includes primitive congenital and secondary causes of different nature. Among the primary forms osteogenesis imperfecta has a prevalence of 1:15000 pediatric patients. In this context, an observational study was conducted at Calcium-Phosphorus Clinic of our Pediatric Endocrinology Department, studying a cohort of 22 pediatric patients (0-18 years) referred for a condition of suspected bone primary fragility, from 2019 to 2021. The study aims to identify a possible diagnostic-assistance pathway that can be proposed to pediatric patients with suspected bone fragility, directing them to clinical and instrumental investigations that allow rapid identification of the underlying pathology and subsequent correct treatment and follow-up to improve their quality of life. Through this investigation it was possible to highlight the central role played by the clinical-anamnestic framework of the Pediatrician Endocrinologist, who allows to identify patients deserving of further investigations, in particular bone metabolism assessment, densitometry, and in selected cases molecular analysis via NGS panel for analysis of genes selected for bone fragility [COL1A1, COL1A2, IFITM5, TMEM38B, CREB3L1, BMP1 CRTAP, LEPRE1, PPIB, FKBP10, SERPINH1, SPERPINF1, WNT1, MBTPS2, P3H1, MESD, SP7, SPARC, TENT5A, FAM64A, PLOD2, PLS3]. The analysis of this case series also focuses attention on the peculiar aspects of the natural history of osteogenesis imperfecta, which represents the main primary chronic condition of bone fragility in childhood In particular, what are the differences in clinical presentation that allow to hypothesize a congenital defect of the bone matrix, reserving to these subjects a program of instrumental (detection rate 27-45%) and genetic tests (detection rate 64%) that are part of the so-called "precision medicine" (over all detection rate of program 70%), with subsequent personalized follow-up in order to be able to intercept early and reduce the complications of patients natural history. Despite the case series limitation, this analysis lays the foundations for further multicentric studies and to standardize clinical and molecular aspects in diagnostic-therapeutic-assistance multicentric pathways.

Volume 95

60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

European Society for Paediatric Endocrinology 

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