Balsa A, Martín-Mola E, Gonzalez T, Cruz A, Ojeda S, Gijón-Baños J
Servicio de Reumatología, Hospital La Paz, Madrid, Spain.
Ann Rheum Dis. 1990 Jul;49(7):531-5. doi: 10.1136/ard.49.7.531.
One hundred and one first degree relatives of 35 patients with chondrocalcinosis were examined for the presence of familial disease. Eleven subjects from nine families showed radiological chondrocalcinosis, a prevalence of familial disease of 26%. Two different patterns of disease were noted--the older generation was more commonly affected, and the younger generation and second degree relatives were exempt. Clinical and radiological differences were found between the early and late onset groups, but not between late onset and sporadic forms of chondrocalcinosis. These findings support the suggestion that the true prevalence of familial disease. is underestimated. A dominant, autosomal transmission with variable penetrance is consistent with our findings, which suggests that homozygous patients with familial chondrocalcinosis may present a more severe form of the disease.
对35例软骨钙质沉着症患者的101名一级亲属进行了家族性疾病检查。来自9个家庭的11名受试者显示有放射学证据的软骨钙质沉着症，家族性疾病患病率为26%。观察到两种不同的疾病模式——老年一代更常受累，年轻一代和二级亲属未受累。早发组和晚发组之间存在临床和放射学差异，但晚发型和散发型软骨钙质沉着症之间无差异。这些发现支持了家族性疾病的真实患病率被低估这一观点。显性常染色体传递伴可变外显率与我们的发现一致，这表明家族性软骨钙质沉着症的纯合患者可能表现出更严重的疾病形式。
