Fitzsimmons J S, Guilbert P R
J Med Genet. 1985 Oct;22(5):367-73. doi: 10.1136/jmg.22.5.367.
A family study of hidradenitis suppurativa was undertaken based on 26 subjects with the disease. The probands were obtained from Hospital Activity Analysis (HAA) records for a three year period (1980 to 1983) and by direct referral from hospital specialists over a six month period (1983 to 1984). Family pedigree information was collected by home visits or hospital interviews and confirmation of the disease in relatives was obtained by examination where possible or by telephone contact and hospital/GP records. A total of 62 affected persons was eventually ascertained, 40 females and 22 males. In 11 families there was evidence in favour of a genetic aetiology with single gene transmission. In another three families there was historical evidence of familial occurrence and in nine families no family history was obtained at the time of enquiry. Problems of ascertainment, including variability of age of onset and psychosocial factors, were noted and could be responsible for false negative family histories or underestimation of affected persons.
基于26例化脓性汗腺炎患者开展了一项家族研究。先证者来自三年期间(1980年至1983年)的医院活动分析(HAA)记录,以及六个月期间(1983年至1984年)医院专家的直接转诊。通过家访或医院访谈收集家族谱系信息,并尽可能通过检查、电话联系以及医院/全科医生记录来确认亲属是否患病。最终确定共有62名患者,其中40名女性,22名男性。在11个家族中有证据支持单基因遗传的遗传病因。另外三个家族有家族发病的历史证据,九个家族在调查时未获得家族病史。注意到了确定病例过程中的问题,包括发病年龄的变异性和社会心理因素,这些可能导致家族病史出现假阴性或对患者人数估计不足。