Effect of Medical Treatment
- Phosphate treatment usually will result in a laxative effect, but newer phosphate preparations seem to cause fewer of these problems, and the specialist should be able to help the patient avoid troublesome gastrointestinal effects. It's usually helpful to begin the medication slowly, increasing the amount given gradually over several days so the body can adjust to it.
- Over time, treatment often results in asymptomatic deposition of calcium in the kidney, which usually does not cause problems, but should be monitored carefully through analysis of ultrasounds of the kidneys and urine testing for calcium and creatinine. The degree of nephrocalcinosis is considered to be related to the level of phophate dosage, not to calcium or vitamin D.
- Children may experience different degrees of bone pain in initial stages of treatment. It is also not uncommon for there to be different degrees of disease severity, even among members of the same family.
- The bowing may begin to disappear after one to three years, and it's often wise to be patient rather than to rush into surgery.
- Height is monitored during treatment, particularly as puberty approaches so that treatment dosages keep up with the demands of increased growth during that period and bowing doesn't recur or increase. Sometimes a relative increase through the percentiles is noted over the years of treatment, although this is not always the case.
- Careful medical management of Parathyroid Hormone (PTH) level is very important. Serum calcium and PTH should be monitored routinely, and urine calcium and creatinine levels should be watched as well.
- The goal with current treatment options is not to push to reach a normal serum phosphorus level, as that may result in potentially serious PTH elevations, and increasing the phosphate dosage may only result in increasing the PTH level without any increase in serum phosphorus. Instead, the goal is to improve serum phosphorus levels enough to promote bone healing while keeping calcium and PTH levels in an appropriate range.
- The bowing may begin to disappear after one to three years, and it's often wise to be patient rather than to rush into surgery. It doesn't always help enough, but it can result in impressive straightening of the bones in many cases.
These are the twins shown on our homepage
after 3 years of phosphate and calcitriol treatment
and under experienced treatment management.
It is important to note that XLH is a lifelong condition and that bowing will likely recur if treatment is discontinued before growth is complete, and that there are other symptoms that may occur or progress during adulthood.
© 2011, The XLH Network Inc.
The authors of this web site are not medical professionals, and this information does not substitute for medical care. Information on these pages is based on biomedical research, published in peer-reviewed journals, and international research conferences. Additionally, in some cases anecdotal information is provided by subscribers of the F-HYPDRR group, a mailing list for The XLH Network Inc. A listing of XLH research is available. Please read our full disclaimer.
- Advocacy with ASBMR
- It's easy to think of politicians as ignorant or foolish or self-aggrandizing, and I'm about as cynical as anyone, so I was pleasantly surprised by the experience of visiting Capitol Hill to advocate for sustained funding for basic science research at Nat…
- New NIH Research Study
- NIH Research Study: Open-label Dose-titration Study of the Tolerability and Efficacy of Cinacalcet to Treat Fibroblast Growth Factor 23 (FGF23)-mediated HypophosphatemiaPrincipal Investigator: Dr. Rachel Gafni, MDSponsoring Institute: Craniofaci…
- Rare Disease Week
- The last day of February each year is World Rare Disease Day. This year, it falls on February 28th.Here in the U.S., several medical-professional and patient-support groups have gotten together to make the entire week into a time of awareness and advocacy…
- The Social Media Flashlight: How Facebook Demystified XLH
- We have another guest post today, this time from Jennifer West. She's the mother of an XLHer, who lives and works in the Wisconsin Northwoods. She's also an antique-collector and nature-lover. 2009 was one crazy year. Our youngest child was born, and…