Vázquez Alvaro García-Manzanares, Montesinos Irene Gonzalo, Jiménez Agueda Muñoz, García Jose Antonio Rubio, García Javier Galipenzo, Hernández Julia Alvarez
Sección de Endocrinología y Nutrición, Complejo Hospitalario La Mancha Centro, Alcázar de San Juan, Ciudad Real, España.
Endocrinol Nutr. 2009 Oct;56(8):428-30. doi: 10.1016/S1575-0922(09)72714-7.
Pendred's syndrome is an autosomal recessive disorder leading to congenital sensorineural hearing loss and a variable degree of goiter due to reduced iodine organification. The cause of this disease is dysfunction of an anion transporter protein located on the apical membrane of thyrocytes, called pendrin, which is also found in the kidney and cochlea. Molecular analysis of the gene is useful to identify other affected family members and provide proper genetic advice and early diagnosis in descendants. We present the cases of two siblings with sensorineural deafness who were diagnosed with Pendred's syndrome as adults because one of them consulted for goiter.
彭德莱德综合征是一种常染色体隐性疾病，可导致先天性感音神经性听力损失，以及由于碘有机化减少而出现不同程度的甲状腺肿。该疾病的病因是位于甲状腺细胞顶膜上的一种阴离子转运蛋白（称为 Pendrin）功能障碍，这种蛋白在肾脏和耳蜗中也有发现。对该基因进行分子分析有助于识别其他受影响的家庭成员，并为后代提供适当的遗传咨询和早期诊断。我们报告了两名患有感音神经性耳聋的兄弟姐妹的病例，他们成年后被诊断为彭德莱德综合征，原因是其中一人因甲状腺肿前来咨询。
