Hypophosphatemic rickets in an Italian multicentric cohort of 24 subjects: a clinical and molecular characterisation

• Published in: Endocrine Vol. 88; no. 1; pp. 285 - 294
• Main Authors: Chimenz, R., Columbu, C., Pugliese, F., Arena, A., Bonifazi Meffe, L., Carbone, V., Concolino, D., di Filippo, L., Eller-Vainicher, C., Fischetto, R., Giannotta, AF, Giustina, A., Gori, G., Lampis, A., Monti, L., Naciu, AM, Palermo, A., Palumbo, O., Pracella, R., Rutigliano, I., Sacco, M., Salcuni, AS, Sestito, S., Tabacco, G., Vinci, G., Castori, M., Scillitani, A., Guarnieri, V.
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.04.2025; Springer Nature B.V
• Subjects: 25-Hydroxyvitamin D; 25-Hydroxyvitamin D3 1-alpha-Hydroxylase - genetics; Adolescent; Adult; Alkaline phosphatase; Child; Child, Preschool; Cohort Studies; Diabetes; Endocrinology; Exons; Familial Hypophosphatemic Rickets - genetics; Female; Humanities and Social Sciences; Humans; Hypophosphatemia; Infant; Internal Medicine; Italy; Male; Medicine; Medicine & Public Health; multidisciplinary; Next-generation sequencing; Nutrient deficiency; Original Article; PHEX Phosphate Regulating Neutral Endopeptidase - genetics; Phosphorus; Phosphorus - blood; Polymorphism, Single Nucleotide; Reabsorption; Rickets; Rickets, Hypophosphatemic - genetics; Science; Sodium-Phosphate Cotransporter Proteins, Type IIc; Sodium-Phosphate Cotransporter Proteins, Type III - genetics; Vitamin D; Young Adult; Italy; SLC34A3; CYP27B1; Rickets; Hypophosphataemia; FGF23; PHEX

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 level...