Kopp Peter, Pesce Liuska, Solis-S Juan Carlos
Division of Endocrinology, Metabolism and Molecular Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60614, USA.
Trends Endocrinol Metab. 2008 Sep;19(7):260-8. doi: 10.1016/j.tem.2008.07.001. Epub 2008 Aug 7.
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing impairment, presence of goiter, and a partial defect in iodide organification, which may be associated with insufficient thyroid hormone synthesis. Goiter development and development of hypothyroidism are variable and depend on nutritional iodide intake. Pendred syndrome is caused by biallelic mutations in the SLC26A4 gene, which encodes pendrin, a transporter of chloride, bicarbonate and iodide. This review discusses the controversies surrounding the potential role of pendrin in mediating apical iodide efflux into the lumen of thyroid follicles, and discusses its functional role in the kidney and the inner ear.
彭德莱德综合征是一种常染色体隐性疾病，其特征为感音神经性听力障碍、甲状腺肿的存在以及碘有机化部分缺陷，这可能与甲状腺激素合成不足有关。甲状腺肿的发展和甲状腺功能减退的发展情况各不相同，且取决于碘的营养摄入量。彭德莱德综合征由SLC26A4基因的双等位基因突变引起，该基因编码pendrin，一种氯、碳酸氢盐和碘的转运体。本文综述了围绕pendrin在介导碘向甲状腺滤泡腔顶端流出中的潜在作用的争议，并讨论了其在肾脏和内耳中的功能作用。
