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.
MeSH terms
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Fibroblast Growth Factor-23*
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Fibroblast Growth Factors* / genetics
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Fibroblast Growth Factors* / metabolism
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Glucuronidase / genetics
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Glucuronidase / metabolism
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Humans
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Hypophosphatemia* / etiology
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Hypophosphatemia* / genetics
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Intestinal Absorption / genetics
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Klotho Proteins
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PHEX Phosphate Regulating Neutral Endopeptidase / genetics
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Parathyroid Hormone* / metabolism
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Phosphate Transport Proteins / genetics
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Phosphate Transport Proteins / metabolism
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Phosphates / metabolism
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Phosphorus / metabolism
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Vitamin D / analogs & derivatives
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Vitamin D / metabolism
Substances
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Fibroblast Growth Factor-23
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Fibroblast Growth Factors
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Parathyroid Hormone
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Phosphates
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1,25-dihydroxyvitamin D
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Vitamin D
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Klotho Proteins
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Phosphate Transport Proteins
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PHEX protein, human
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PHEX Phosphate Regulating Neutral Endopeptidase
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Glucuronidase
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FGF23 protein, human
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Phosphorus