X‐linked hypophosphatemic rickets: A study (with literature review) of linear growth response to calcitriol and phosphate therapy

Deborah J. Petersen, Anne M. Boniface, Francine W. Schranck, Reta C. Rupich, Michael P. Whyte

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85 Scopus citations


Not all children with X‐linked hypophosphatemia (XLH) have demonstrated improved linear growth with calcitriol [1,25‐(OH)2D3] and inorganic phosphate (Pi) therapy. To assess which factors are associated with a favorable growth response during this treatment, we retrospectively compared demographics and biochemical parameters of bone metabolism to the linear growth patterns of 20 children with XLH who were prepubertal and had not required osteotomy. A total of 15 patients had family histories consistent with XLH; 5 appeared to be sporadic cases. During 3 years of therapy, the growth velocities of 12 patients had been at or above the mean for age (good growers) and those of 8 patients had been below the mean (poor growers). Data from the two groups were contrasted. We found no difference between the good growers and poor growers before or after the 3 year period of therapy in mean age, dietary calcium, calcitriol dose or compliance, or Pi dose or compliance. Both groups increased their mean fasting serum Pi levels with treatment. The TmP/GFR (x + SEM) of the good growers improved with therapy (1.9 + 0.2 to 2.6 + 0.2 mg/dl, p = 0.01), and their posttreatment value was higher compared to that of the poor growers (2.6 + 0.1 versus 2.2 + 0.1 mg/dl, p = 0.02). However, their enhanced TmP/GFR was not associated with a reduction in serum iPTH levels (before, 693 + 50; after, 688 + 76 pg/ml; p = 0.9). The Z test for binomial proportions showed that the group that grew well contained a disproportionate number of girls (10 of 12, p = 0.04). Our findings suggest that calcitriol may exert a direct effect on the renal tubule to improve Pi reclamation in XLH. The observation that heterozygous girls appear to respond better than hemizygous boys to calcitriol and Pi therapy provides evidence for a gene dosage effect in the expression of this X‐linked dominant disorder.

Original languageEnglish
Pages (from-to)583-597
Number of pages15
JournalJournal of Bone and Mineral Research
Issue number6
StatePublished - Jun 1992


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