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