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一例17岁男性Darier病患者,其母和6个同胞中的5个也患有同样疾病。患者甲状腺比正常人大1.5倍,硬,右侧睾丸不能触知。甲状腺功能正常,肾盂造影发现右肾缺如。其母曾患甲状腺功能低下症,经治疗已愈,5个同胞有甲状腺肿大而硬,但功能检查正常,3个同胞抗微粒体抗体滴度升高。HLA表现型研究,家庭成员所有患病者中均未发现特异的共同的单型。Darier病伴发泌尿生殖系异常如多囊肾和性腺发育不良已分别报告,而本例是同时有泌尿系和生殖系的病变,以及家庭成员中自身免疫性甲状腺炎的发病率高,并且也发现了Darier病有体液或细胞免疫性的改变,因而认为Darier病
In a 17-year-old male with Darier’s disease, 5 of his mother’s and 6 siblings also had the same disease. Patients with thyroid 1.5 times larger than normal, hard, right testes can not touch. Thyroid function is normal, pyelography found that the right kidney is missing. The mother had suffered from hypothyroidism, the treatment has been cured, 5 sibs with goiter and hard, but the functional tests were normal, three sibs anti-microsomal antibody titers increased. In HLA phenotypic studies, no specific common haplotype was found in all affected patients in family members. Darier’s disease with genitourinary abnormalities such as polycystic kidney disease and gonadal dysplasia have been reported separately, but in this case, there are both urinary and germ-line lesions and high incidence of autoimmune thyroiditis among family members, and also Darier’s disease was found to have humoral or cellular immunity and therefore Darier’s disease