论文部分内容阅读
Pendred综合征(耳—甲状腺肿综合征)是少见的遗传性疾病,我们遇见一个家族中两例患者,报告如下。 例1,女,20岁,因甲状腺肿大来院就诊。患者10岁起听力逐渐减退,14岁时出现甲状腺增大,但迄今无甲亢或甲减表现。体检:心率80次/分,血压110/70mmHg,营养中等。智力和性发育检查均正常。颈部甲状腺显著肿大,无结节、压痛和血管杂音。实验室检查:T_31.2ng/ml,T_478nS/ml,rT_3 44.6ng/dl。甲状腺吸~(131)Ⅰ率:3小时33.4%,24小时43.4%。过氯酸钾释放试验:30分钟4%、60分钟21%、90分钟11%、120分钟24%。~(131)Ⅰ甲状腺扫描见放射性分布均匀,估计重量150g。听力检查:250～500Hz为25～30dB,1000～4000Hz为左80～100dB,右70dB。耳膜正常,中耳压正常,声顺图A型。
Pendred’s syndrome (ear-goiter syndrome) is a rare genetic disease that we encounter in two patients in one family, reported below. Example 1, female, 20 years old, came to hospital due to goiter. Hearing diminished at 10 years of age, with thyroid enlargement at age 14, but so far no hyperthyroidism or hypothyroidism. Physical examination: heart rate 80 beats / min, blood pressure 110 / 70mmHg, moderate nutrition. Mental and sexual development tests were normal. The neck thyroid was significantly enlarged, nodules, tenderness and vascular murmur. Laboratory tests: T_31.2ng / ml, T_478nS / ml, rT_3 44.6ng / dl. Thyroid suction ~ (131) Ⅰ rate: 33.4% in 3 hours, 43.4% in 24 hours. Potassium perchlorate release test: 4% for 30 minutes, 21% for 60 minutes, 11% for 90 minutes, 24% for 120 minutes. ~ (131) Ⅰ thyroid scan see radioactive distribution, an estimated weight of 150g. Hearing test: 250 ~ 500Hz 25 ~ 30dB, 1000 ~ 4000Hz left 80 ~ 100dB, right 70dB. Eardrum normal, normal pressure in the middle ear, Shun Figure A type.