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家族性桥本病及其并发病的临床调查研究 |
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黄继胜 朱玉柱 高 鹏 刘爱琴
【摘 要】 目的 探讨家族性桥本病的遗传方式及其伴发病的发生情况。方法 采用手术、穿刺病检、放射免疫、系谱分析等方法，追踪调查3个家系67人。结果 确诊病人21例，其中女20例，男1例，男女发病率有极显著性差异(P<0.01)。系谱分析中可见几代连续传递；病人的双亲中均有一方是病人，双亲无病者子女未见患病。伴发病：本组腺内、外伴发病9例(43%)，其中甲状腺癌2例(9.5%)，甲状腺机能亢进1例(4.8%)，甲状腺机能减退3例(14.3%)，Grave突眼伴顽固性高血压1例(4.8%)，Grave突眼伴屈光不正1例(4.8%)，甲状腺腺瘤1例(4.8%)。结论 家族性桥本病的遗传方式符合Mendel定律的单基因遗传，即常染色体显性遗传的一种特殊形式—从性遗传。其伴发病的发生率高于散发性桥本病，且具多样性。
【关键词】 桥本病 家族性 遗传 并发病
Clinical investigation and research of familial Hashimoto disease and its concomitant disease
Huang Jisheng,Zhu Yuzhu,Gao Peng
(Department of Surgery,the First People's Hospital of Shangqiu,He'nan 476100)
【Abstract】 Objective To explore the hereditary way of familial Hashimoto disease and the conditions of its concomitant disease.Methods 67 persons of 3 Hashimoto disease families were investigated by the use of operation,pathological analysis of puncture,radioimmune assay(RIA)and pedigree analysis.Results 21 cases of Hashimoto disease were determined(20 female and 1 male).The incidence showed great difference between female and male(P<0.01).In pedigree continuous transmission in a few generation was found.One of the parents of the patients must occur this disease.But,the children whose parents had good health had not this disease.The concomitant diseases:thyroid cancer 2 (9.5%),hyperthyroidism 1(4.8%),hypothyroidism 3(14.3%),Grave protruding bug-eyed with hypertension 1(4.8%),Grave protruding bug-eyed with ametropia 1(4.8%),thyroid adenoma 1 (4.8%).There were 9 concomitant diseases(43%)inside and outside of the gland .Conclusion The hereditary way of Hashimoto disease in family tree accord with Mendel law of simple genotypically heredity.The incidence of the concomitant diseases was higher than that in sporadic Hashimoto disease.
【Key words】 Hashimoto disease Familial Heredity Concomitant disease
桥本病(Hashimoto disease,HD)属于器官免疫的甲状腺自身免疫性疾病，临床常见散发。具有明显家族聚集现象和典型遗传特征的家族性桥本病([1] [2] 下一页
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