Miyoshi K, Suzuki M, Ohno F, Yamano T, Yagi F
Lancet. 1975 Sep 13;2(7933):480-2. doi: 10.1016/s0140-6736(75)90549-8.
Two families in which more than two members had Alport's syndrome were examined. Serum-antithyroid-antibodies were found in all those with Alport's syndrome and some of their relatives. These included three cases of Alport's syndrome with nephritis and/or nerve deafness and two normal people who can be regarded as carriers of Alport's syndrome from one family, and one case of the syndrome with nephritis and deafness from the other family. One case of Alport's syndrome had symptoms of hypothyroidism, and biopsy specimens from another case were characteristic of chronic thyroiditis. The results indicate that serum-anti-thyroidantibodies, together with nephritis and deafness, are a sign of Alport's syndrome. The results accord with transmission of the syndrome as an autosomal dominant trait and suggest that Alport's syndrome may be caused by an immunological abnormality.
对两个有两名以上成员患有阿尔波特综合征的家庭进行了检查。在所有患有阿尔波特综合征的患者及其一些亲属中均发现了血清抗甲状腺抗体。其中包括3例患有肾炎和/或神经性耳聋的阿尔波特综合征患者，以及来自一个家庭的两名可被视为阿尔波特综合征携带者的正常人，还有来自另一个家庭的1例患有肾炎和耳聋的该综合征患者。1例阿尔波特综合征患者有甲状腺功能减退症状，另1例的活检标本具有慢性甲状腺炎的特征。结果表明，血清抗甲状腺抗体与肾炎和耳聋一起，是阿尔波特综合征的一个标志。这些结果符合该综合征作为常染色体显性性状的遗传方式，并提示阿尔波特综合征可能由免疫异常引起。
