Genetic causes of hypophosphatemia

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URI: https://hdl.handle.net/10902/36093
ISSN: 0026-4806
ISSN: 1827-1669
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Autoría
Puente Ruiz, Nuria; Solis, Pablo; Riancho Moral, José AntonioAutoridad Unican
Fecha
2024
Derechos
© 2024 Edizioni Minerva Medica
Publicado en
Minerva Medica, 2024, 115(3), 320-336
Editorial
Edizioni Minerva Medica
Palabras clave
Hypophosphatemia
Genetics
Fibroblast growth factor 23
Rickets
Osteomalacia
Resumen/Abstract
Phosphate is a key component of mineralized tissues and is also part of many organic compounds. Phosphorus homeostasis depends especially upon intestinal absorption, and renal excretion, which are regulated by various hormones, such as PTH, 1,25-dihydroxyvitamin D, and fibroblast growth factor 23. In this review we provide an update of several genetic disorders that affect phosphate transporters through cell membranes or the phosphate-regulating hormones, and, consequently, result in hypophosphatemia.
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