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ea0099rc10.2 | Rapid Communications 10: Calcium and Bone | Part II | ECE2024

Clinical features of a multicenter Italian cohort of adult patients with X-linked hypophosphatemia

Carrara Silvia , Vai Silvia , Della Valentina Simone , Arcidiacono Gaetano , Torres Marco , Giambo Federica , Pusterla Alessia , Fraire Federica , Palermo Andrea , Pigliaru Francesca , Camozzi Valentina , Eller Vainicher Cristina , Castellano Elena , Gianotti Laura , Cetani Filomena , Procopio Massimo , Barale Marco , Giannini Sandro , Vezzoli Giuseppe , Corbetta Sabrina

X-linked hypophosphatemia (XLH) is a rare genetic disease due to inactivation of the PHEX gene, which results in enhanced secretion of the phosphaturic hormone fibroblast growth factor 23 (FGF23); the latter induces renal phosphate wasting and hypophosphatemia. Skeletal and dental anomalies and recently described increase in cardiovascular risk are typical clinical findings. We retrospectively evaluated 58 adult patients with XLH from 9 Italian tertiary centres [34 females, 24...
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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