Cortical and trabecular bone density in X-linked hypophosphatemic rickets
Abstract
CONTEXT: X-linked hypophosphatemic rickets is caused by mutations in PHEX. Even though the disease is characterized by disordered skeletal mineralization, detailed bone densitometric studies are lacking.
OBJECTIVE: The aim of the study was to assess volumetric bone mineral density (vBMD) in X-linked hypophosphatemic rickets using forearm peripheral quantitative computed tomography.
SETTING: The study was conducted in the metabolic bone clinic of a pediatric orthopedic hospital.
PATIENTS: Thirty-four patients (age, 6 to 60 years; 24 female) with PHEX mutations were studied, of whom 7 children (age, 6 to 11 years) were actively being treated with calcitriol and phosphate supplementation. Twenty-one patients (age, 16 to 40 years) had received the same therapy before but had discontinued the treatment; 6 patients (age, 12 to 60 years) had never received this treatment.
MAIN OUTCOME MEASURES: Trabecular and cortical vBMD of the radius.
RESULTS: Trabecular vBMD was elevated (mean age-specific and sex-specific z-score: +1.0) when all patients were analyzed together, due to very high results in currently treated patients (mean z-score: +2.4) and slightly above-average mean values in the other patients. Cortical vBMD was low when the entire cohort was analyzed together (mean z-score: -3.3), but was higher in currently treated patients (mean z-score: -1.3) than in patients who had discontinued therapy (mean z-score: -3.8) or who had never been treated (mean z-score: -4.1).…
How strong is the evidence?
Evidence Hub reads this as a cross-sectional, done in people. Its evidence level is 4 of 5 (Low · observational). Observational designs can show an association but not prove cause. Reported size: 7 participants or records.
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