Hypophosphatemic rickets with hyperparathyroidism is caused by mutations at the klotho locus with massively increased klotho activity.
| Hypophosphatemia | |
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Hypophosphatemia is caused by renal phosphate wastage. |
| Hyperphosphaturia | |
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Hyperphosphaturia is caused by downregulation of phosphate transporters. |
| Hypercalcemia | |
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The reason for hypercalcemia is rather complex. Elevated PTH levels certainly play a role. |
| Hyperparathyroidism | |
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Parathyroid hormone is down regulated. |
| Vitamin D hypovitaminosis | |
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The deficiency of calcitriol is the result of decreased synthesis and increased deactivation. |
| 1. |
Kurosu H et al. (2005) Suppression of aging in mice by the hormone Klotho.
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| 2. |
Brownstein CA et al. (2008) A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism.
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| 3. |
Liu H et al. (2007) Augmented Wnt signaling in a mammalian model of accelerated aging.
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| 4. |
Imura A et al. (2007) alpha-Klotho as a regulator of calcium homeostasis.
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| 5. |
Haruna Y et al. (2007) Amelioration of progressive renal injury by genetic manipulation of Klotho gene.
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| 6. |
Chang Q et al. (2005) The beta-glucuronidase klotho hydrolyzes and activates the TRPV5 channel.
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| 7. |
Bektas A et al. (2004) Klotho gene variation and expression in 20 inbred mouse strains.
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| 8. |
Arking DE et al. (2003) KLOTHO allele status and the risk of early-onset occult coronary artery disease.
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| 9. |
Manya H et al. (2002) Klotho protein deficiency leads to overactivation of mu-calpain.
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| 10. |
Fukino K et al. (2002) Regulation of angiogenesis by the aging suppressor gene klotho.
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| 11. |
Arking DE et al. (2002) Association of human aging with a functional variant of klotho.
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| 12. |
Koh N et al. (2001) Severely reduced production of klotho in human chronic renal failure kidney.
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| 13. |
Mori K et al. (2000) Disruption of klotho gene causes an abnormal energy homeostasis in mice.
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| 14. |
Saito Y et al. (2000) In vivo klotho gene delivery protects against endothelial dysfunction in multiple risk factor syndrome.
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| 15. |
Matsumura Y et al. (1998) Identification of the human klotho gene and its two transcripts encoding membrane and secreted klotho protein.
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| 16. |
Kuro-o M et al. (1997) Mutation of the mouse klotho gene leads to a syndrome resembling ageing.
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| 17. |
Ichikawa S et al. (2007) A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.
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| 18. |
Chen CD et al. (2007) Insulin stimulates the cleavage and release of the extracellular domain of Klotho by ADAM10 and ADAM17.
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| 19. |
Urakawa I et al. (2006) Klotho converts canonical FGF receptor into a specific receptor for FGF23.
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| 20. |
OMIM.ORG article Omim 604824
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