• Minerva medica · Jun 2024

    Review

    Genetic causes of hypophosphatemia.

    • Nuria Puente, Pablo Solis, and Jose A Riancho.
    • Service of Internal Medicine, Hospital U. M. Valdecilla, University of Cantabria, Santander, Spain.
    • Minerva Med. 2024 Jun 1; 115 (3): 320336320-336.

    AbstractPhosphate 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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