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Pediatric
4-year-old female with spontaneous XLH
Symptoms of XLH in children
Childhood symptoms of XLH may vary and appear early in life, with some manifesting as rickets and osteomalacia.3 Chronic low levels of serum phosphorous negatively impacts bone formation, dental development, muscle/nerve function, and energy levels.1,2
Every patient with XLH is different. A patient does not need to show all of the following symptoms to have XLH.
Skeletal defects
Chronic hypophosphatemia leads to defective growth plate development and bone mineralization.3
Skeletal symptoms present as:1,3
Rickets and osteomalacia
Lower extremity abnormalities (e.g., leg bowing and knock knees)
Short Stature
Bone pain
Chiari malformations
Other skeletal symptoms include:1
- Craniosynostosis
- Delayed walking
Muscular dysfunction
Chronic hypophosphatemia also affects the muscles in the body.1
Muscular symptoms present as:1
- Stiffness
- Pain
- Weakness
- Gait disturbances
*Actor portrayal.
Dental abnormalities
Chronic hypophosohatemia can lead to dental defects caused by improper mineralization of dentin, enlargement of the pulp chambers, and erosion of the enamel. 1
Dental symptoms present as:3
Dental abscesses and tooth loss
Other symptoms
Chronic hypophosohatemia can lead to additional symptoms in children.
One of those symptoms present as:3
Fatigue
Because some symptoms of XLH like chronic pain or fatigue may not be visible, it is important to listen to your patients. Getting an accurate diagnosis can help the evaluation of symptoms your patient may be experiencing.
XLH progression in real patients
Pediatric
15-year-old female with spontaneous XLH
Connect the symptoms
The disease burden of XLH
Understand more about how XLH impacts the lives of patients.
Diagnosing XLH
Learn more about how to diagnose XLH through testing.
XLH resources and community
Find resources for you and your patients to understand more about this rare condition.
References:
1. Dahir K, et al. J Endocr Soc. 2020;4(12):bvaa151. 2. Hamilton AA, et al. J Endocr Soc. 2020;6(8):bvaa086. 3. Haffner D,et al. Nat Rev Nephrol. 2019;15(7):435-455.