Hypercalciuric rickets is an autosomal recessive disorder caused by mutations of the SLC34A3 gene. It is characterized by disturbed bode development as a result of hypophosphatemia and hypercalciuria.
Hypercalciuria | |
Hypercalciuria is a cardinal symptom in HHRH and typically accompanied by bone deformations. |
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Beck L et al. (1998) Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. |
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Lorenz-Depiereux B et al. (2006) Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. |
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Tieder M et al. (1985) Hereditary hypophosphatemic rickets with hypercalciuria. |
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Jones A et al. (2001) Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene. |
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Tieder M et al. (1992) A new kindred with hereditary hypophosphatemic rickets with hypercalciuria: implications for correct diagnosis and treatment. |
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Chen C et al. (1989) Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria. |
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Proesmans WC et al. (1987) Autosomal dominant hypophosphataemia with elevated serum 1,25 dihydroxyvitamin D and hypercalciuria. |
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Tieder M et al. (1987) "Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect. |
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Tieder M et al. (1979) [Familial form of idiopathic hypercalciuria with nanism, bone and renal involvement in children]. |
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Haussler M et al. (1977) Influence of phosphate depletion on the biosynthesis and circulating level of 1alpha,25-dihydroxyvitamin D. |
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OMIM.ORG article Omim 241530 |