Pendred综合征的临床表型与遗传学机制  

Clinical phenotype and genetic mechanisms of Pendred syndrome

作　　者：胡欣[1] 陈国芳[1] 刘超[1] Hu Xin Chen Guofang Liu Chao.(Endocrine and Diabetes Center, Affiliated Hospital of Integrated Traditional Chinese and Western Medicine, Nanjing University of Traditional Chinese Medicine, Nanjing 210028, China)

机构地区：[1]南京中医药大学附属中西医结合医院内分泌代谢病院区,210028

出　　处：《国际内分泌代谢杂志》2017年第5期341-344,共4页International Journal of Endocrinology and Metabolism

摘　　要：耳聋-甲状腺肿综合征（Pendred综合征）是一种以感觉神经性耳聋、甲状腺肿及部分碘有机化障碍为特征的常染色体隐性遗传疾病,缘于编码pendrin的SLC26A4基因突变.Pendrin主要在甲状腺、内耳及肾脏内表达.在甲状腺内,pendrin分布于调节碘外排的甲状腺滤泡细胞游离缘膜.SLC26A4基因突变导致部分碘有机化障碍或许与滤泡腔内的碘离子减少有关.在肾脏内,pendrin则作为氯/碳酸氢盐泵以维持体内酸碱平衡.在内耳,pendrin参与阴离子转运及维持蜗内电位稳定.随着对pendrin研究的不断深入,其在甲状腺激素合成、肾脏内氯离子重吸收及内淋巴组成等方面的作用逐渐被人们所知晓.Deafness-goiter syndrome（Pendred syndrome） is an autosomal recessive disorder characterized by sensorineural deafness, goiter and a partial defect in iodide organification.Pendred syndrome is caused by biallelic mutations in the SLC26A4 gene, which encodes pendrin.Pendrin is mainly expressed in thyroid, inner ear, and kidney.In the thyroid, pendrin localizes to the apical membrane of thyrocytes,where it may be involved in mediating iodide efflux.Mutations in the SLC26A4 gene are associated with a partial iodide organification defect, presumably becausc of a reduced iodide efflux into the follicular lumen.In the kidney, pendrin functions as a chloride/bicarbonate exchanger to maintain acid-based balance.In the inner ear, pendrin is important in the maintenance of a normal anion transport and the endocochlear potential.Elucidation of the function of pendrin has provided unexpected novel insights into the pathophysiology of thyroid hormone biosynthesis, chloride retention in the kidney, and composition of the endolymph.

关 键 词：PENDRED综合征 PENDRIN SLC26A4 耳聋 甲状腺肿 

分 类 号：R581.3[医药卫生—内分泌]