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...

Descripción completa

Detalles Bibliográficos
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
Descripción
Sumario: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).

Ejemplares similares