Abstract
X-linked hypophosphatemia is a hereditary form of rickets that results from an isolated renal tubular wasting of phosphate. The clinical features unique to this disorder, and the recent advances in our understanding of vitamin D metabolism and molecular genetics in X-linked hypophosphatemia are reviewed. Finally, a succinct critique of the controversial treatment modalities round up this review.
MeSH terms
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Animals
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Calcitriol / administration & dosage
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Genetic Linkage
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Growth Disorders / etiology
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Humans
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Hypophosphatemia, Familial / complications
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Hypophosphatemia, Familial / drug therapy
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Hypophosphatemia, Familial / genetics*
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Magnetic Resonance Imaging
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Mice
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Mice, Mutant Strains
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Muscles / metabolism
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Phosphates / administration & dosage
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Phosphorus / metabolism
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Rickets / etiology
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X Chromosome
Substances
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Phosphates
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Phosphorus
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Calcitriol