{"id":16146,"date":"2025-08-11T09:00:12","date_gmt":"2025-08-11T09:00:12","guid":{"rendered":"https:\/\/introlab.net\/?p=16146"},"modified":"2025-08-10T15:00:40","modified_gmt":"2025-08-10T15:00:40","slug":"what-is-x-linked-hypophosphatemia","status":"publish","type":"post","link":"https:\/\/staging-introlab.dev-digitaldot.com\/en\/what-is-x-linked-hypophosphatemia\/","title":{"rendered":"What is X-linked hypophosphatemia?"},"content":{"rendered":"

X-linked hypophosphatemia (XLH) is a rare inherited disease that affects approximately one in 20,000 to 60,000 children born each year.<\/em> Although the exact number of people affected is unknown, it is estimated that around 250 people in Serbia live with this condition. In XLH, the kidneys excrete too much phosphate, leading to chronically low levels in the blood. In children, this most often results in bone deformities and slowed growth, while adults may experience chronic pain, stiffness, and joint problems. \u00a0The condition can develop as early as infancy<\/strong>, and timely diagnosis and treatment can significantly reduce symptoms and prevent serious complications.
\n<\/p>\n

What is X-linked hypophosphatemia?<\/h2>\n

XLH is a chronic condition in which the body cannot retain enough phosphate in the blood.<\/em> Phosphate is essential for building and maintaining strong bones and teeth, but in people with XLH, the kidneys excrete it in greater amounts than needed.<\/strong> This leads to bone softening (osteomalacia in adults and rickets in children), pain, and reduced mobility.<\/p>\n

The disease is caused by a mutation in the PHEX gene on the X chromosome.<\/strong> This mutation results in elevated levels of the hormone FGF23<\/strong>, which prevents the kidneys from retaining phosphate and reduces the activation of vitamin D. As a result, bones do not receive enough minerals, affecting their growth and structure.<\/p>\n

\"A
XLH leads to chronically low phosphate levels in the blood.<\/figcaption><\/figure>\n

Does XLH affect men or women more?<\/h3>\n

Because the mutation is located on the X chromosome, men, who have only one X chromosome, usually develop more severe symptoms.<\/strong> Women, who have two X chromosomes, may have milder or more severe symptoms depending on which chromosome they pass on to their children. The disease can be inherited from a parent, but in some cases, it occurs spontaneously (de novo mutation).<\/em><\/p>\n

If one parent carries the mutation, there is a 50% chance of passing it on to a child<\/strong>, regardless of the child\u2019s sex.<\/p>\n

What are the symptoms of X-linked hypophosphatemia?<\/h2>\n

Symptoms of XLH can be present from early childhood<\/em> and may change over the course of life.<\/p>\n

In children:<\/p>\n