■生长激素缺乏症(GHD)是一种罕见的疾病,其特征是生长激素的产生完全或部分减少。维生素D缺乏是常见的,可能与几种病理有关。然而,GHD与维生素D缺乏之间的关系尚未得到广泛研究.本研究旨在分析与维生素D状态相关的VDR基因多态性,以确保对GHD患者更好的护理。
■在突尼斯儿童医院与苏塞市FarhatHached医院合作进行了一项病例对照研究,包括GHD患者和健康受试者。使用PCR-RFLP技术对VDR基因多态性进行了遗传分析。用Haploview软件检查单倍型,使用SPSS和R编程语言进行统计分析。
■我们的研究表明,患者和健康受试者之间维生素D(p=0,049)和钙浓度存在显着差异,在GHD组中较低(p=0.018)。五个多态性的等位基因和基因型频率的比较表明FokI多态性与GHD之间存在关联。此外,ApaI基因型与PTH(p=0.019)和ALP(p=0.035)之间存在显着差异。FokI基因型与磷相关(p=0,021)。此外,一种单倍型,CTAGT,患者和健康受试者之间表现出显著差异(p=0.002)。
■我们的研究结果表明,维生素D缺乏症在GHD患者中很常见,即使在接受rhGH治疗时。这强调了治疗期间补充维生素D的重要性。
UNASSIGNED: Growth Hormone Deficiency (GHD) is a rare disease marked by a complete or partial reduction in the production of growth hormone. Vitamin D deficiency is frequent and may be associated with several pathologies. However, the association between GHD and vitamin D deficiency has not been extensively studied. This study aimed to analyse VDR gene polymorphisms related to vitamin D status to ensure better care for patients with GHD.
UNASSIGNED: A case-control study was conducted at the Children\'s Hospital of Tunis in collaboration with the Farhat Hached\'s Hospital of Sousse, including patients with GHD and healthy subjects. Genetic analysis of the VDR gene polymorphisms was performed using PCR-RFLP technique. Haplotypes were examined with Haploview software, while statistical analyses were carried out using SPSS and R programming language.
UNASSIGNED: Our study revealed significant differences in vitamin D (p = 0, 049) and calcium concentrations between patients and healthy subjects, which were lower in the GHD group (p = 0,018). A comparison of allelic and genotypic frequencies of the five polymorphisms indicated an association between the FokI polymorphism and GHD. Furthermore, significant difference was observed between the ApaI genotypes and PTH (p = 0,019) and ALP (p = 0,035). FokI genotypes were associated with phosphorus (p = 0,021). Additionally, One haplotype, CTAGT, exhibited a significant difference between the patients and healthy subjects (p = 0,002).
UNASSIGNED: Our study findings indicate that hypovitaminosis D is common among patients with GHD, even when undergoing treatment with rhGH. This underscores the critical importance of vitamin D supplementation during treatment.