Pendred综合征5例报告

Pendred's syndrome: a report of 5 cases

目的 探讨Pendred综合征的诊断及外科处理。方法 对经治的 3个家系 5例的临床资料进行回顾性分析。结果 所有病例均为不同程度感音性耳聋 ;甲状腺Ⅱ°～Ⅲ°肿大 ,4例有结节变 ;过氯酸盐释放试验为 10 %～ 5 2 %。 1例因误诊而手术。 5例均行口服甲状腺素治疗 ,经随访 4～ 7年 ,甲状腺肿均有不同程度的缩小、压迫症状减轻。结论 过氯酸盐释放试验是诊断Pendred综合征的重要标准 ,并可能在患者亲属中筛选出该征携带者。Pendred综合征宜保守治疗 ,即使因明显压迫症状而手术 ,术后也需服用甲状腺素终生替代治疗。

Objective To study the diagnosis and management of Pendred's syndrome. Methods The clinical data of 5 patients with Pendred's syndrome were analysed retrospectively. Results All patients had congenital sensorineural hearing loss and gradeⅡ-Ⅲ goiter,and 4 patients compained with thyroid nodure. Of the 5 cases, the results of perchlorate discharge test were 10%-52%. One case underwent subtotal thyroidectomy owing to misdiagnosis before the operation. All the 5 cases received thyroxine and were followed up for 4-7 years.All the patients goiter shrank and the compression symptoms relieved. Conclusions The perchlorate discharge test is the important diagnostic method and may detect the healthy carriers in the patients' relatives.Conservative treatment should be used in most patients. Patients undergoing operation owing to serious compression symptoms should be managed with thyroxine after surgery.