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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 6 7人。结果 确诊病人 2 1例 ,其中女 2 0例 ,男 1例 ,男女发病率有极显著性差异 (P <0 0 1)。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 (4 3 % ) ,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
Objective To investigate the inherited pattern of familial Hashimoto’s disease and its incidence. Methods Sixty-seven individuals from three families were followed up by surgery, biopsy, radioimmunoassay and pedigree analysis. Results Twenty-one patients were diagnosed, including 20 females and 1 male. There was a significant difference between male and female (P < 0.01). Several generations of continuous transmission can be seen in the pedigree analysis; one of the parents of the patient is the patient, and no child of the parent-daughter is sick. Associated with disease: In this group, 9 cases (4 3%) were associated with internal and external gonads, including 2 cases of thyroid cancer (95%), 1 case of hyperthyroidism (48%), and 3 cases of hypothyroidism (14 3%). Grave’s eye was observed with 1 case of refractory hypertension (48%), Grave’s eye with 1 case of refractive error (48%), and 1 case of thyroid adenoma (48%). Conclusion The inherited pattern of familial Hashimoto’s disease accords with the single gene inheritance of Mendel’s law, which is a special form of autosomal dominant inheritance. The incidence of comorbidity is higher than sporadic Hashimoto’s disease