New insights into X-linked hypophosphatemia
- 1 January 1997
- journal article
- review article
- Published by Wolters Kluwer Health in Current Opinion in Nephrology and Hypertension
- Vol. 6 (1) , 15-19
- https://doi.org/10.1097/00041552-199701000-00004
Abstract
X-linked hypophosphatemia is a heritable form of rickets characterized biochemically by phosphaturia and abnormal bioactivation of vitamin D. Recent advances include the observation, using kidney cells from the X-linked hypophosphatemia mouse model (Hyp), that in-vitro renal phosphate transport is normal yet bone mineralization may be intrinsically abnormal. Of special interest is the identification of a gene (PEX) that is mutated in X-linked hypophosphatemic patients.Keywords
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