Treatment for XLH comes in two major categories:
Medication.
Surgical or orthopedic treatment.
Treatment almost always should take place at major research centers because of the rare nature of this disorder, and The XLH Network strongly suggests relying on specialists familiar with the condition and experienced in treating and managing it. These are most often endocrinologists or nephrologists with an interest in metabolic bone disorders.
Medications used in treating XLH – typically an active form of Vitamin D [such as Rocaltrol (Calcitriol) or ONE-ALPHA®] and phosphorus (such as K-PHOS®, Neutra-Phos®, or PHOSPHATE-SANDOZ®) – should be prescribed very carefully and taken in association with regular monitoring of blood and urine chemistries, including ParaThyroid Hormone (PTH) levels and urine calcium levels. The focus should not be on how high the phosphorus level can increase, as might be appropriate for other causes of a low blood phosphorus level, because in XLH the more phosphate you take, the more you eliminate in the urine, and the higher the PTH may go...which you will want to avoid. The medication can result in a variety of important effects on the kidneys that specialists will want to keep under tight control.
Progress is often measured in years, rather than months, so this can be very frustrating for parents and children alike. And if it’s not effective, or diagnosis came very late, surgical or orthopedic intervention may be required.
The XLH Network Inc. does not prescribe or suggest any particular treatment – that should be done by medical professionals and specialists in bone metabolism. These notes are provided based on the personal experience of members.
