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胰岛素依赖型糖尿病与先天性重症肌无力及自身免疫性甲状腺疾病的罕见关联。

Unusual association of insulin-dependent diabetes mellitus with congenital myasthenia gravis and autoimmune thyroid disease.

作者信息

Karp M, Kott E, Shapira M, Assa S, Brautbar C, Gurewitz R, Laron Z

出版信息

Isr J Med Sci. 1984 Nov;20(11):1078-81.

PMID:6511337
Abstract

A 26-year-old woman with congenital myasthenia gravis and antibodies to the acetylcholine receptor developed overt insulin-dependent diabetes with positive islet cell antibodies and thyroid microsomal and gastric parietal cell antibodies. Her younger sister has been an insulin-dependent diabetic since the age of 7 years, and the mother has nongoitrous hypothyroidism. In the same period the woman in question developed a transient chemical hyperthyroidism. HLA typing of the family members showed that the diabetes was probably associated with an HLA AW30, BW38, DR4 haplotype, found in both sisters and in their father, and that the thyroid disease was associated with the A29, B7, DR6 haplotype found in the patient and in her mother. This familial HLA pattern may indicate that each autoimmune manifestation in the patient is due to a different susceptible gene associated with the HLA system.

摘要

一名26岁患有先天性重症肌无力且有抗乙酰胆碱受体抗体的女性,出现了明显的胰岛素依赖型糖尿病,伴有胰岛细胞抗体、甲状腺微粒体抗体和胃壁细胞抗体阳性。她的妹妹自7岁起就是胰岛素依赖型糖尿病患者,母亲患有非甲状腺肿性甲状腺功能减退症。在此期间,该女性出现了短暂的化学性甲状腺功能亢进。对家庭成员进行的HLA分型显示,糖尿病可能与姐妹俩及其父亲均有的HLA AW30、BW38、DR4单倍型相关,而甲状腺疾病与患者及其母亲均有的A29、B7、DR6单倍型相关。这种家族性HLA模式可能表明,患者的每种自身免疫表现均归因于与HLA系统相关的不同易感基因。

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