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Hypophosphatemic rickets with hypercalciuria

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.

Symptoms

Hypercalciuria
Hypercalciuria is a cardinal symptom in HHRH and typically accompanied by bone deformations.

Systematic

Disorders of the renal phosphate transporters
Hypophosphatemic rickets with hypercalciuria
SLC34A3
Idiopathic basal ganglia calcification 1
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
Nephrolithiasis/osteoporosis, hypophosphatemic, 2

References:

1.

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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2.

Bergwitz C et al. (2006) SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.

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3.

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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4.

Tieder M et al. (1985) Hereditary hypophosphatemic rickets with hypercalciuria.

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5.

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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6.

Tieder M et al. (1992) A new kindred with hereditary hypophosphatemic rickets with hypercalciuria: implications for correct diagnosis and treatment.

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7.

Chen C et al. (1989) Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria.

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8.

Proesmans WC et al. (1987) Autosomal dominant hypophosphataemia with elevated serum 1,25 dihydroxyvitamin D and hypercalciuria.

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9.

Tieder M et al. (1987) "Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect.

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10.

Tieder M et al. (1979) [Familial form of idiopathic hypercalciuria with nanism, bone and renal involvement in children].

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11.

Haussler M et al. (1977) Influence of phosphate depletion on the biosynthesis and circulating level of 1alpha,25-dihydroxyvitamin D.

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12.

OMIM.ORG article

Omim 241530 external link
Update: Aug. 14, 2020
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