Reilly M, Daly L, Hutchinson M
Department of Neurology, St Vincent's and Adelaide Hospitals, Dublin, Republic of Ireland.
J Neurol Neurosurg Psychiatry. 1993 Mar;56(3):298-300. doi: 10.1136/jnnp.56.3.298.
In a population based study of the prevalence of Wilson's disease in the Republic of Ireland from 1970-89, 26 definite and probable cases were ascertained. The adjusted birth incidence rate was 17.0 per million live births (95% (confidence interval 9.9 to 27.2)) for the 20 year period 1950-69. The gene frequency was 0.41% (95% (confidence interval 0.31% to 0.52%) indicating that one in 122 of the population was a gene carrier. Allowing for a maximal degree of consanguinity, the gene frequency is reduced to 0.36% and the proportion of heterozygotes to one in 139 of the population. The consistency of the adjusted birth incidence rates over the decades 1950-59 and 1960-69 suggests a high degree of ascertainment of diagnosed cases of Wilson's disease.
在一项关于1970年至1989年爱尔兰共和国威尔逊病患病率的基于人群的研究中，确定了26例确诊和可能病例。1950年至1969年这20年间，调整后的出生发病率为每百万活产17.0例（95%置信区间为9.9至27.2）。基因频率为0.41%（95%置信区间为0.31%至0.52%），表明每122人中就有1人是基因携带者。考虑到最大程度的近亲结婚，基因频率降至0.36%，杂合子比例降至每139人中1人。1950年至1959年和1960年至1969年这几十年间调整后的出生发病率的一致性表明对威尔逊病确诊病例的确诊率很高。
