Article
Hypophosphatemic rickets in an Italian multicentric cohort of 24 subjects: a clinical and molecular characterisation.
Endocrine - 1 Apr 2025
Chimenz R, Columbu C, Pugliese F, Arena A, Bonifazi Meffe L, Carbone V, Concolino D, di Filippo L, Eller-Vainicher C, Fischetto R, Giannotta A F, Giustina A, Gori G, Lampis A, Monti L, Naciu A M, Palermo A, Palumbo O, Pracella R, Rutigliano I, Sacco M, Salcuni A S, Sestito S, Tabacco G, Vinci G, Castori M, Scillitani A, Guarnieri V
Abstract excerpt
PURPOSE: Rickets is a rare bone disorder due to altered calcium, vitamin D, and phosphorus metabolism, caused by nutritional deficiencies or, in 13% of cases, genetic origin. Few data are available on an Italian cohort of rickets. METHODS: Twenty-four patients with confirmed low serum phosphorus levels and reduced renal tubular phosphate reabsorption were recruited from different tertiary care centres over the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.