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

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 s...

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Autores principales: Brar, Preneet Cheema, Dingle, Elena, Pappas, John, Raisingani, Manish
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5460444/
https://www.ncbi.nlm.nih.gov/pubmed/28620554
http://dx.doi.org/10.1155/2017/3905905
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author Brar, Preneet Cheema
Dingle, Elena
Pappas, John
Raisingani, Manish
author_facet Brar, Preneet Cheema
Dingle, Elena
Pappas, John
Raisingani, Manish
author_sort Brar, Preneet Cheema
collection PubMed
description 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).
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spelling pubmed-54604442017-06-15 Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor Brar, Preneet Cheema Dingle, Elena Pappas, John Raisingani, Manish Case Rep Endocrinol Case Report 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). Hindawi 2017 2017-05-23 /pmc/articles/PMC5460444/ /pubmed/28620554 http://dx.doi.org/10.1155/2017/3905905 Text en Copyright © 2017 Preneet Cheema Brar et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Brar, Preneet Cheema
Dingle, Elena
Pappas, John
Raisingani, Manish
Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor
title Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor
title_full Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor
title_fullStr Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor
title_full_unstemmed Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor
title_short Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor
title_sort clinical phenotype in a toddler with a novel heterozygous mutation of the vitamin d receptor
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5460444/
https://www.ncbi.nlm.nih.gov/pubmed/28620554
http://dx.doi.org/10.1155/2017/3905905
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