Clinical Characteristics of Familial Graves' Disease at the Tokyo Women's Medical University Hospital : Higher Male-to-Female Ratio and Earlier Onset Compared to Non-familial Cases

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  • 家族性バセドウ病の臨床的特徴 : 東京女子医科大学病院での検討

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バセドウ病を含む自己免疫性甲状腺疾患には家族集積が認められ,遺伝性因子がその発症や進展に関与している可能性が示唆されている.今回当院に通院中の家族性バセドウ病患者と家族歴のない患者とを比較し,家族性バセドウ病の特徴について臨床的検討を行った.対象は,当院に受診中のバセドウ病患者で兄弟姉妹,親,子にバセドウ病を発症していることが確認された28名を家族性バセドウ病とした.また,2000年に当科初診のバセドウ病患者のうち家族歴を有しないものより43名を受診日より無作為に抽出してコントロールとした.男性の割合は家族性で有意に高く,発症年齢は家族性で有意に低かった.発症時の遊離甲状腺ホルモン,甲状腺受容体抗体は有意差を認めなかった.今回の検討では,若年発症者は遺伝性因子の関与が強く,高齢発症者では環境因子の関与も大きい可能性が示唆された.また,疾患の活動性と遺伝性因子が直接関与しない可能性が示唆された.

To characterize the influence of genetic factors on clinical features of Graves' disease (GD), we investigated 28 patients with familial GD, which were patients who had at least one family member with GD within the proband's first-degree relatives. We compared 43 non-familial cases of GD that were selected randomly from patients referred to the Endocrine Clinic of our hospital. The male-to-female ratio was significantly higher in familial than non-familial GD. The age of onset of the disease was significantly lower in familial GD, but we could not detect any statistically significant differences in thyroid hormone concentrations or the levels of thyrotropin receptor-related antibodies. These data suggest that the influences of chromosome X-linked genes or estrogen products may be less important than susceptibility genes for the onset of familial than non-familial GD, and nongenetic factors may have a stronger influence in older patients. The results also suggested that genetic factors may not influence the disease activities by themselves, but further studies are necessary to clarify these issues.

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