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X‐linked hypophosphatemic rickets: A study (with literature review) of linear growth response to calcitriol and phosphate therapy
Author(s) -
Petersen Deborah J.,
Boniface Anne M.,
Schranck Francine W.,
Rupich Reta C.,
Whyte Michael P.
Publication year - 1992
Publication title -
journal of bone and mineral research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.882
H-Index - 241
eISSN - 1523-4681
pISSN - 0884-0431
DOI - 10.1002/jbmr.5650070602
Subject(s) - calcitriol , hypophosphatemia , medicine , hypophosphatemic rickets , endocrinology , vitamin d and neurology , rickets , urology , gastroenterology , pediatrics
Not all children with X‐linked hypophosphatemia (XLH) have demonstrated improved linear growth with calcitriol [1,25‐(OH) 2 D 3 ] and inorganic phosphate (P i ) 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 P i dose or compliance. Both groups increased their mean fasting serum P i 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 P i reclamation in XLH. The observation that heterozygous girls appear to respond better than hemizygous boys to calcitriol and P i therapy provides evidence for a gene dosage effect in the expression of this X‐linked dominant disorder.