New insights into X-linked hypophosphatemia.
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.
Grieff
M
M
Renal Division, Washington University School of Medicine, St. Louis, MO 63110, USA.
D008040:Genetic Linkage; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology; D014960:X Chromosome / Q000502:physiology*