Hypophosphatämische Rachitis mit Hypercalciurie
Hypercalciurische Rachitis ist eine autosomal rezessive Erkrankung, welche durch Mutationen des SLC34A3-Gens ausgelöst wird. Charakteristisch sind eine gestörte Knochenentwicklung aufgrund einer Hypophosphatämie und einer Hypercalciurie.
Hypercalciurie | |
![]() |
Die Hypercalciurie ist das Leitsymptom der HHRH meist mit Knochenveränderungen vergesellschaftet. |
Gliederung
Referenzen:
1. |
Beck L et al. (1998) Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. [^] |
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. [^] |
3. |
Lorenz-Depiereux B et al. (2006) Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. [^] |
4. |
Tieder M et al. (1985) Hereditary hypophosphatemic rickets with hypercalciuria. [^] |
5. |
Jones A et al. (2001) Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene. [^] |
6. |
Tieder M et al. (1992) A new kindred with hereditary hypophosphatemic rickets with hypercalciuria: implications for correct diagnosis and treatment. [^] |
7. |
Chen C et al. (1989) Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria. [^] |
8. |
Proesmans WC et al. (1987) Autosomal dominant hypophosphataemia with elevated serum 1,25 dihydroxyvitamin D and hypercalciuria. [^] |
9. |
Tieder M et al. (1987) "Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect. [^] |
10. |
Tieder M et al. (1979) [Familial form of idiopathic hypercalciuria with nanism, bone and renal involvement in children]. [^] |
11. |
Haussler M et al. (1977) Influence of phosphate depletion on the biosynthesis and circulating level of 1alpha,25-dihydroxyvitamin D. [^] |