Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Nephrolithiasis/osteoporosis, hypophosphatemic, 1

Hypophosphatemic nephrolithiasis/osteoporosis-1 is an autosomal dominant disorder caused by mutations of the SLC34A1 gene. The hypophosphatemia is the result of excessive renal phosphorous loss. Hypopphosphatemia and Hyperphosphaturia cause osteoporosis and nephrocalcinosis, respectively.

Symptoms

Hypophosphatemia
Hyperphosphaturia results in osteoporosis and nephrocalcinossis.
Hypercalciuria
Renal calcium wastage is responsible for osteoporosis and nephrocalcinosis.
Nephrocalcinosis
Nephrocalcinosis is the result of excessive renal wastage of calcium and phosphate.
Osteoporosis
Osteoporosis is the result of excessive renal wastage of calcium and phosphate.

Systematic

Disorders of the renal phosphate transporters
Hypophosphatemic rickets with hypercalciuria
Idiopathic basal ganglia calcification 1
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
SLC34A1
Nephrolithiasis/osteoporosis, hypophosphatemic, 2

References:

1.

Prié D et al. (2002) Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter.

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2.

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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Update: Sept. 26, 2018

 

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