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.	Beck L et al. (1998) Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities.

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

3.	OMIM.ORG article Omim 612286