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What is the history of X-linked Hypophosphatemia (XLH)?
When was X-linked Hypophosphatemia (XLH) discovered? What is the story of this discovery? Was it coincidence or not?
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The XLH was first described in the year 1937 by Albright et al*. Disorder is hypophosphatemic inherited most common, representing 80% of the cases, the result of a mutation that essentially inactivates one of the genes on the x chromosome. When this gene, called gene PHEX (Phosphate regulating gene with homologies to endopeptidase on the X chromosome has the mutation XLH, a protein that circulates in the bloodstream called FGF23 (fibroblast growth factor) increases, making the kidneys to waste phosphorus and suppress the full activation of the vitamin D in a form that the body can use. The loss of phosphate from the kidneys prevents the body maintain the right level of phosphorus in the blood.
*Albright F, Butler AM, Bloomberg E. Rickets resistant to vitamin D therapy. American J Dis Child 1937; 54: 529.
*Albright F, Butler AM, Bloomberg E. Rickets resistant to vitamin D therapy. American J Dis Child 1937; 54: 529.
Posted Aug 9, 2017 by Felipe Zúñiga 2650
