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: