Rare Endocrinology News
5 Facts you should know about
X-linked hypophosphatemia (XLH)
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An inherited disorder characterized by low levels of phosphate in the blood
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Phosphate levels are low because phosphate is abnormally processed in the kidneys, which causes a loss of phosphate in the urine (phosphate wasting) and leads to rickets. XLH is usually diagnosed in childhood
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Features include bowed or bent legs, short stature, bone pain, and severe dental pain
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XLH is caused by mutations in the PHEX gene on the X chromosome, and inheritance is X-linked dominant
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Treatment generally involves supplements of phosphate and high-dose calcitriol and may also include growth hormones, corrective surgery, and dental treatment
Rare Endocrinology News
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