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Rare genetic mutation: Why is the PHEX gene linked to your bone health?
Genes play a vital role in our bodies, especially in bone health. When it comes to X-linked hypophosphatemia (XLH), mutations in the PHEX gene are one of the causes. This rare disease caused by genetic mutation is not caused by dietary deficiency, and regular vitamin D supplementation cannot cure it. This makes the cause of XLH more complicated. Let us explore the role of the PHEX gene and its impact on our bones. health effects.
Symptoms and signs of XLH
XLH primarily affects bones and teeth, causing pain, abnormal bone structure, and degenerative arthritis. Symptoms may vary between children and adults and include, but are not limited to, the following symptoms:
Children:
- Cartilage
- Short stature
- Leg deformation (such as O-shaped legs or X-shaped legs)
Adult:
- Bone pain
- Tired
- Broken or suspected fracture
- Degenerative Arthritis
- Hearing loss
Genetic background
XLH is estimated to occur in about 1 in 20,000 people and is the most common cause of inherited hypophosphatemia. The disease is associated with mutations in the PHEX gene located on the human X chromosome. The main function of the PHEX protein is not only to regulate another protein called fibroblast growth factor 23 (FGF23), but also to influence the kidneys' ability to reabsorb phosphorus. When the PHEX gene is mutated, its normal function is disrupted, leading to excessive activity of FGF23, ultimately leading to hypophosphatemia and skeletal abnormalities.
Diagnosis process of XLH
Clinical laboratory evaluation for the diagnosis of hypophosphatemic rickets usually focuses primarily on serum calcium, phosphorus, and alkaline phosphatase levels. In patients with XLH, serum phosphorus test results usually show lower than normal values, while urinary phosphorus losses are significantly higher than the reference range, which provides an important biochemical basis for the diagnosis of the disease.
Treatment Plan
Traditional treatments include the use of human growth hormone, active vitamin D, and oral phosphorus. However, these therapies may cause some adverse effects, such as secondary hyperparathyroidism and kidney stones. With the advancement of science and technology, burosumab, a monoclonal antibody targeting FGF23 first launched in 2018, has become a breakthrough treatment solution for this disease, significantly improving the health status of patients.
Social and Cultural Impact
As awareness of XLH increases, the International XLH Alliance was formed to provide support to affected patient groups around the world. In addition, Jennyfer Marques Parinos from Brazil is an athlete who competed in the Paralympics due to XLH. Her story is also raising people's awareness of the disease.
Summary
The correlation between the PHEX gene and bone health cannot be ignored. Its mutations not only affect the quality of life of patients, but also trigger society's deep thinking about the relationship between genes and health. Should we pay more attention to the role genes play in our daily health and actively seek solutions?
