目的:本研究通过分析基于多个数据库的Pendred综合征(PDS)患者甲状腺表型的临床特点,为开展与甲状腺表型相关的随访提供统计数据支持,为随访持续时间和项目选择提供参考。
方法:通过耳聋变异数据库(DVD)搜索与PDS相关的致病性或可能/致病性突变,ClinVar,和PubMed数据库,对突变位点进行计数,并对特征和甲状腺表型进行分析.
结果:在多个数据库中报告的PDS病例中,听力表型发作的中位年龄为1.0(1.0,2.0)岁,甲状腺表型发病的中位年龄为14.5(5.8,21.0)岁,甲状腺表型比听力表型延迟的中位年龄为10.0(4.0,17.0)岁.两种表型的发病时间分布存在显著差异(Z=-4.560,p<0.01)。在这些患者中,甲状腺肿的阳性率,甲状腺结节,甲状腺功能异常,高氯酸盐排放试验(PDT)为78%,78%,69%,78%,分别。此外,有移码突变的基因型组甲状腺表型阳性项目数未显著高于无移码突变组(Z=-1.452,p=0.147).
结论:PDS早期漏诊可能是由于甲状腺表型发病晚,检查项目阳性率非100%所致。因此,甲状腺进入成年期的多项目随访将使患者受益。目前,基因型和表型之间的关系尚不清楚,根据基因型无法确定预后。
This study aimed to provide statistical data support for the development of thyroid phenotype-related follow-up and reference for follow-up duration and project selection by analyzing the clinical characteristics of thyroid phenotype in Pendred syndrome (PDS) based on multiple databases.
PDS-related pathogenic or possibly/pathogenic mutations were searched by Deafness Variation Database (DVD), ClinVar, and PubMed databases, the mutation sites were counted and the characteristics and thyroid phenotypes were analyzed.
The median age of hearing phenotype onset in PDS cases reported in multiple databases was 1.0 (1.0, 2.0) years, the median age of thyroid phenotype onset was 14.5 (5.8, 21.0) years, and the median age that thyroid phenotype was more delayed than hearing phenotype was 10.0 (4.0, 17.0) years. There were significant differences in the distribution of onset time between the two phenotypes (Z=-4.560, p<0.01). In these patients, the positive rates of goiter, thyroid nodules, abnormal thyroid function, and perchlorate discharge test (PDT) were 78%, 78%, 69%, and 78%, respectively. Moreover, the number of thyroid phenotype-positive items in the genotype group with frameshift mutation was not significantly higher than that in the group without frameshift mutation (Z=-1.452, p=0.147).
The early missed diagnosis of PDS may be due to the late onset of thyroid phenotype and the non-100% positive rate of examination items. Therefore, multi-item follow-up of the thyroid gland into adulthood will benefit patients. At present, the relationship between genotype and phenotype is still unclear, and prognosis cannot be determined according to genotype.