Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor.

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Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor.

Case Rep Endocrinol. 2017;2017:3905905

Authors: Brar PC, Dingle E, Pappas J, Raisingani M

Abstract
We present the clinical phenotype of a toddler who presented with vitamin D-resistant rickets, with one of the highest initial levels of alkaline phosphatase and parathyroid hormone (PTH) levels reported in the literature. The toddler had novel compound heterozygous mutations in the ligand-binding site of the vitamin D receptor and had an excellent response to calcitriol (1,25(OH)2D).

PMID: 28620554 [PubMed]

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