Genetic Disorders of Renal Phosphate Transport.

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    • Subject Terms:
      GENETIC disorders; BONES; CALCIFICATION; KIDNEY stones; HYPOPARATHYROIDISM; BIOMINERALIZATION
    • Abstract:
      The article discusses the genetic disorders of renal phosphate transport. Consequences of abnormal renal phosphate transport include tissue calcification, renal lithiasis and bone demineralization. Common features of hypoparathyroidism are hyperphosphatemia and an excessively elevated glomerular filtration rate (TmP/GFR) value. Other genetic disorders of renal phosphate transport include Jansen's metaphyseal chondrodysplasia, insufficient renal phosphate reabsorption, renal phosphate leak, Blomstrand's chondrodysplasia, autosomal dominant hypophosphatemic rickets and autosomal recessive hypophosphatemia.