Hypophosphatemic nephrolithiasis/osteoporosis-2 is an autosomal dominant disorder caused by mutations of the SLC9A3R1 gene. The hypophosphatemia is the result of excessive renal phosphorous loss. Both hypophosphatemia and Hyperphosphaturia cause osteoporosis and nephrocalcinosis, respectively.
1. |
Karim Z et al. (2008) NHERF1 mutations and responsiveness of renal parathyroid hormone. |
2. |
OMIM.ORG article Omim 612287 |