Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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 [^]
Update: April 29, 2019