Benito González J, Pérez Plasencia D, Benito González F, Blanco Pérez P, Aguirre García F, Mories T, Cañizo Alvarez A
Servicio de ORL y Patología Cérvico-Facial, Hospital Universitario de Salamanca, Salamanca, España.
Acta Otorrinolaringol Esp. 1999 Aug-Sep;50(6):477-9.
Pendred syndrome is an autosomal recessive disorder characterized by congenital deafness and goiter. The gene responsible for this syndrome is located on chromosome 7q31. The disorder is related to a defect in iodine organification, but the molecular basis of the defect remains unknown. We report two cases of Pendred syndrome, a young woman and her brother. The patients presented deafness, goiter that appeared in the prepubertal years, and a positive perchloriate discharge test. The genetic factors, clinical features, and diagnosis are reviewed.
彭德莱德综合征是一种常染色体隐性疾病，其特征为先天性耳聋和甲状腺肿。导致该综合征的基因位于7号染色体的7q31区域。该疾病与碘有机化缺陷有关，但缺陷的分子基础尚不清楚。我们报告了两例彭德莱德综合征病例，患者为一名年轻女性及其兄弟。这两名患者均表现出耳聋、青春期前出现的甲状腺肿以及高氯酸盐释放试验阳性。我们对其遗传因素、临床特征及诊断进行了综述。
