What is X-linked Hypophosphatemia (XLH) Rickets?
X-linked hypophosphatemia (XLH) rickets is a rare, inherited disease related to low levels of phosphate in the blood, termed hypophosphatemia. Phosphorus is important for bone and teeth development and also helps contribute to cell structures and energy production.
XLH rickets is the most common form of rickets. Affected children experiences slow growth and are shorter than other children of their age. It is an inherited condition where a parent with the condition may pass it on to their children.
Causes of X-linked Hypophosphatemia (XLH) Rickets
XLH rickets is caused by a gene mutation. A change in the gene causes your kidneys to filter too much phosphate from your body through the urine, which is referred to as phosphate wasting.
Symptoms of X-linked Hypophosphatemia (XLH) Rickets
Symptoms of XLH rickets are usually evident within the first two years of life when leg bowing becomes apparent with the onset of weight-bearing. Other common symptoms include:
- Bone tenderness
- Muscle weakness
- Impaired growth
- Dental abscesses
- Hearing loss
- Kidney stones
- Increased tendency for fractures
- Muscle spasms
Diagnosis of X-linked Hypophosphatemia (XLH) Rickets
Your doctor diagnoses XLH rickets with the help of a physical examination, family history, and through various tests such as X-ray and blood samples. Additional tests to evaluate manifestations of the disease include:
- Kidney function test
- Kidney ultrasound
- Hormone levels related to phosphate balance
Treatment for X-linked Hypophosphatemia (XLH) Rickets
Treatment focuses on the correction of phosphate levels in the blood and oral vitamin D therapy to ensure adequate bone growth and development. If diagnosed early, pain and leg bowing typically improves with frequent oral administration of phosphate and high-dose vitamin D therapy. Regular dental follow-up and good oral hygiene with flossing is encouraged to prevent dental abscesses.
