耳聋-甲状腺肿综合征的临床诊断及分子病因分析

发布时间：2018-10-08 06:57

【摘要】：目的分析耳聋-甲状腺肿综合征(Pendred综合征)的临床特点和分子诊断特征,以加强耳鼻喉科医生对本病的认识,减少漏诊、误诊。方法调查2003年1月~2013年12月在解放军总医院聋病分子诊断中心就诊的前庭水管扩大耳聋患者1745人,对其中体格检查发现甲状腺肿大的患者行甲状腺超声、甲功五项、过氯酸盐释放试验及PDS基因测序。结果共诊断4例Pendred综合征,4例患者甲状腺肿表型均出现于11岁后,甲状腺功能检查无明显异常,B超检查提示甲状腺肿伴甲状腺结节,过滤酸盐释放试验证实3人有甲状腺碘有机化障碍,1人结果在正常范围。接受基因筛查的3人均被证实携带PDS基因双等位基因突变,PDS基因缺陷是其分子病因。结论 Pendred综合征在中国的发病率可能并不低,部分Pendred综合征病人因就诊时甲状腺表型尚未显现或医生经验不足而出现漏诊。对于临床就诊的低龄EVA患者应常规检查甲状腺并告知其随访。基因诊断是Pendred综合征诊断的重要依据,对患者父母再生育前产前诊断及患者本人婚配前遗传咨询具有重要指导意义。
[Abstract]:Objective to analyze the clinical and molecular diagnostic features of deaf-goiter syndrome (Pendred) in order to strengthen the understanding of the disease by the doctors of otolaryngology and to reduce the misdiagnosis and misdiagnosis. Methods A total of 1745 patients with enlarged vestibular aqueduct deafness from January 2003 to December 2013 in the Molecular diagnosis Center of Deafness in PLA General Hospital were investigated. Perchlorate release test and PDS gene sequencing. Results the goiter phenotypes of 4 patients with Pendred syndrome were diagnosed after the age of 11 years. There was no obvious abnormality in thyroid function. B-ultrasonography showed goiter with thyroid nodule. Filtration acid release test confirmed that 3 people had thyroid iodine organic disorder and 1 person had the results in normal range. Three individuals who were screened for PDS gene were confirmed to be responsible for its molecular etiology by carrying double allelic mutations of PDS gene and the defect of PDS gene. Conclusion the incidence of Pendred syndrome in China may not be low, and some patients with Pendred syndrome have missed diagnosis due to the absence of thyroid phenotype at the time of visit or lack of doctor's experience. The thyroid gland should be routinely examined and followed up for young EVA patients. Gene diagnosis is an important basis for the diagnosis of Pendred syndrome. It is of great significance for prenatal diagnosis of patients' parents before reproduction and genetic counseling before marriage.
【作者单位】：解放军总医院耳鼻咽喉-头颈外科;河北省儿童医院耳鼻喉科;解放军总医院海南分院耳鼻咽喉头颈外科;
【基金】：国家十二五支撑项目(2012BAI09B00,2012BAI12B01) 国家自然科学基金重点项目(81230020);国家自然科学基金面上项目(81371096,81371098) 卫生部行业专项基金(201202005) 北京市自然科学基金面上项目(7132177,7122172) 北京市科技新星计划(2009B34,2010B081) 国家高技术研究发展计划(“863”,2012AA020101)
【分类号】：R764.43

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