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X-Linked Hypophosphatemia
Inheritance patterns and prenatal diagnosis
Inheritance patterns
X-linked dominant. Fathers only pass the disorder to their daughters. The XLH syndrome can appear when there has been no family history of bone problems. Sometimes, in these so-called sporadic cases, tests for blood phosphorus will indicate that one parent has hypophosphatemia without any associated bone disease; alternatively there may be no apparent family history of any phosphate handling problems.
Prenatal diagnosis
This is possible, if there is a family history, although in practise it may be difficult to find a molecular biology laboratory that would provide such a service. The gene affected in this syndrome is called PHEX, and it codes for an endopeptidase associated with bone and parathyroid cells, which is believed to act on a phosphate-handling hormone.
How is it treated?
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