Genetic causes of hypophosphatemia

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. I...

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Detalles Bibliográficos
Autores: Puente Ruiz, Nuria, Solis, Pablo, Riancho Moral, José Antonio|||0000-0003-0691-8755
Tipo de recurso: artículo
Fecha de publicación:2024
País:España
Institución:Universidad de Cantabria (UC)
Repositorio:UCrea Repositorio Abierto de la Universidad de Cantabria
Idioma:inglés
OAI Identifier:oai:repositorio.unican.es:10902/36093
Acceso en línea:https://hdl.handle.net/10902/36093
Access Level:acceso abierto
Palabra clave:Hypophosphatemia
Genetics
Fibroblast growth factor 23
Rickets
Osteomalacia
Descripción
Sumario: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.