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. |
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Tieder M et al. (1979) [Familial form of idiopathic hypercalciuria with nanism, bone and renal involvement in children]. |
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OMIM.ORG article Omim 241530 |