X-linked hypophosphatemic rickets (XLH) is the first cause of inherited hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive expression of the phosphaturic factor FGF23. Symptoms are mainly related to rickets in children and osteomalacia in adults and cause several complications that can be highly invalidating. Due to its rarity, XLH is poorly known and diagnosis is frequently delayed. Conventional treatment is based on oral phosphate salts supplementation and activated vitamin D analogs, which however, cannot cure the disease in most case. Due to the low prevalence of XLH, an experts' opinion survey was conducted across Italian centers to collect data on XLH and on its management.

X-linked hypophosphatemic rickets: An Italian experts' opinion survey / Emma F.; Cappa M.; Antoniazzi F.; Bianchi M.L.; Chiodini I.; Eller Vainicher C.; Di Iorgi N.; Maghnie M.; Cassio A.; Balsamo A.; Baronio F.; De Sanctis L.; Tessaris D.; Baroncelli G.I.; Mora S.; Brandi M.L.; Weber G.; D'Ausilio A.; Lanati E.P.. - In: THE ITALIAN JOURNAL OF PEDIATRICS. - ISSN 1720-8424. - ELETTRONICO. - 45:(2019), pp. 1-7. [10.1186/s13052-019-0654-6]

X-linked hypophosphatemic rickets: An Italian experts' opinion survey

Balsamo A.;De Sanctis L.;Brandi M. L.;D'Ausilio A.;
2019

Abstract

X-linked hypophosphatemic rickets (XLH) is the first cause of inherited hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive expression of the phosphaturic factor FGF23. Symptoms are mainly related to rickets in children and osteomalacia in adults and cause several complications that can be highly invalidating. Due to its rarity, XLH is poorly known and diagnosis is frequently delayed. Conventional treatment is based on oral phosphate salts supplementation and activated vitamin D analogs, which however, cannot cure the disease in most case. Due to the low prevalence of XLH, an experts' opinion survey was conducted across Italian centers to collect data on XLH and on its management.
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Emma F.; Cappa M.; Antoniazzi F.; Bianchi M.L.; Chiodini I.; Eller Vainicher C.; Di Iorgi N.; Maghnie M.; Cassio A.; Balsamo A.; Baronio F.; De Sanctis L.; Tessaris D.; Baroncelli G.I.; Mora S.; Brandi M.L.; Weber G.; D'Ausilio A.; Lanati E.P.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2158/1164072
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