一名维生素D受体发生新型杂合突变幼儿的临床表型
Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor.
作者信息
Brar Preneet Cheema, Dingle Elena, Pappas John, Raisingani Manish
机构信息
Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, New York University School of Medicine, New York, NY, USA.
Department of Pediatrics, Clinical Genetics Services, New York University School of Medicine, New York, NY, USA.
出版信息
Case Rep Endocrinol. 2017;2017:3905905. doi: 10.1155/2017/3905905. Epub 2017 May 23.
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).
我们报告了一名患有维生素D抵抗性佝偻病幼儿的临床表型，其初始碱性磷酸酶和甲状旁腺激素（PTH）水平是文献中报道的最高水平之一。该幼儿在维生素D受体的配体结合位点存在新的复合杂合突变，并且对骨化三醇（1,25(OH)2D）有良好反应。
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