Vitamin D deficiency in the absence of enteropathy in three cases with common variable immunodeficiency
Vitamin D deficiency in the absence of enteropathy in three cases with common variable immunodeficiency
复制标题
DOI：
10.1159/000128661
复制
发表时间：
2008-01-01
影响因子：
2.8
通讯作者：
Kokuludag, Ali
中科院分区：
文献类型：
--
作者：
Ardeniz, Omur;Avci, Cigir Biray;Kokuludag, Ali
背景：常见变异型免疫缺陷（CVID）的特征是低丙种球蛋白血症和抗体产生缺陷。在此，我们描述了3名被诊断患有CVID的患者，他们在没有肠道病变的情况下检测到维生素D缺乏。研究方法：进行生化和免疫学分析、血清骨钙素、甲状旁腺激素、25-OH维生素D、1，25（OH）2维生素D、维生素A、维生素E、尿钙和脱氧吡啶啉测量。用逆转录聚合酶链反应检测外周血单个核细胞和毛囊中维生素D受体（VDR）的表达。采用高效液相色谱法检测VDR基因多态性。结果：除了维生素D外，没有患者出现营养缺乏。其中2例无骨软化症相关症状。与对照组相比，发现VDR表达在外周血单核细胞和毛囊中较低。结论：CVID患者可能存在无症状的维生素D缺乏。维生素D和VDR在先天免疫系统中发挥重要作用，并调节Toll样受体相关反应。延误诊断可能使这些患者不仅易患不可修复的骨丢失，而且易患感染、自身免疫性疾病和恶性疾病，因此强调了及时干预的重要性。版权所有（C）2008 S. Karger AG，巴塞尔。
Background: Common variable immunodeficiency (CVID) is characterized by hypogammaglobulinemia and a defect in antibody production. Herein we describe 3 patients diagnosed with CVID in whom vitamin D deficiency was detected in the absence of enteropathy. Methods: Biochemical and immunological analysis, serum osteocalcin, parathyroid hormone, 25-OH vitamin D, 1,25(OH) 2 vitamin D, vitamin A, vitamin E, urinary calcium, and deoxypyridinoline measurements were carried out. Vitamin D receptor (VDR) expression was examined in the peripheral blood mononuclear cells and hair follicles by reverse transcriptase polymerase chain reaction. VDR gene polymorphism was evaluated by high-performance liquid chromatography. Results: None of the patients presented nutrient deficiencies other than vitamin D. Two of them were free of osteomalacia-related symptoms. VDR expression was found to be lower in the peripheral blood mononuclear cells and hair follicles when compared to the control group. Conclusions: Patients with CVID may present asymptomatic vitamin D deficiency. Vitamin D and VDRs play an important role in the innate immune system and modulate Toll-like receptor-related responses. Delay in diagnosis may predispose these patients not only to irreparable bone loss but also to infections, and autoimmune and malignant disorders, thus emphasizing the importance of prompt intervention. Copyright (C) 2008 S. Karger AG, Basel.