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.
Hyperphosphaturia results in osteoporosis and nephrocalcinossis.
Renal calcium wastage is responsible for osteoporosis and nephrocalcinosis.
Nephrocalcinosis is the result of excessive renal wastage of calcium and phosphate.
Osteoporosis is the result of excessive renal wastage of calcium and phosphate.
|Disorders of the renal phosphate transporters|
|Hypophosphatemic rickets with hypercalciuria|
|Idiopathic basal ganglia calcification 1|
|Nephrolithiasis/osteoporosis, hypophosphatemic, 1|
|Nephrolithiasis/osteoporosis, hypophosphatemic, 2|
Beck L et al. (1998) Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities.[^]
Prié D et al. (2002) Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter.[^]
OMIM.ORG articleOmim 612286 [^]