Vitamin D Resistant Rickets (XLH)
What is XLH?
X-Linked Hypophosphatemia (XLH) is a genetic form of rickets. Unlike nutritional rickets, this cannot be cured by drinking milk or taking standard Vitamin D.
The Problem:
The kidneys waste Phosphorus. They pee it all out. Without phosphorus, bones cannot harden.
Signs:
- Bowed Legs: Starting as soon as the toddler begins walking.
- Short Stature: The child is very short.
- Dental Abscesses: Infections in teeth that have no cavities.
Treatment:
- Old Way: Giving massive doses of Phosphorus and Calcitriol daily. This was hard on the stomach and kidneys.
- New Way: Burosumab (Crysvita). This is a revolutionary injectable medication that fixes the phosphorus leak. It significantly improves leg straightness and growth.
Resources:
- XLH Network: www.xlhnetwork.org