What causes hypophosphatemic rickets?

Updated: May 02, 2018
  • Author: James CM Chan, MD; Chief Editor: Sasigarn A Bowden, MD  more...
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Answer

Several of the most vexing questions about the underlying mechanism that causes the clinical phenotype of X-linked hypophosphatemia (XLH) remain unanswered. A key question awaiting explication concerns the equal degree of reduction in tubular Tmax in both sexes juxtaposed against the significant difference in clinical disease between the sexes. Another question involves the relationship between the reduced tubular Tmax and the reduced 1-alpha-hydroxylation of 25-hydroxycholecalciferol. [13, 14, 15]


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