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Vitamin D–Dependent Rickets

ŞINASI OZSOYLU, MD
Am J Dis Child. 1985;139(7):651. doi:10.1001/archpedi.1985.02140090013007.
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Sir.—I read with interest Dr Dabbagh and colleagues' article "Renal-Nonresponsive, Bone-Responsive Pseudohypoparathyroidism: A Case With Normal Vitamin D Metabolite Levels and Clinical Features of Rickets."1 Although clinical and radiological features of rickets were well defined, the patient's findings were not related to it. I wonder whether she had a kind of vitamin D-dependent rickets. All her laboratory and roentgenographic findings could very well fit this diagnosis. She was a well-developed 13-year-old girl who did not show any clinical sign and symptoms of pseudohypoparathyroidism in which rickets is an unexpected finding, and her family history was also noncontributory for the diagnosis. Her response to parathyroid hormone could not be studied and urinary cyclic 3′,5′-adenosine monophosphate was not determined. Since she did not have aminoaciduria and responded to 1 μg of daily oral calcitriol treatment, most likely she had type I vitamin D–dependent rickets in which the elevation of urinary cyclic

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