Richardson B C, Chafetz N I, Ferrell L D, Zulman J I, Genant H K
Arthritis Rheum. 1983 Nov;26(11):1387-96. doi: 10.1002/art.1780261112.
In a study of 45 adults in a family of Mexican-Indian ancestry, it was found that 22 (49%) had joint symptoms resembling those of degenerative joint disease. Eleven family members had radiographic evidence of chondrocalcinosis, and 1 adult and 3 adolescents had clinical histories and examinations consistent with the familial arthropathy, but no radiographic evidence of disease. The cause of the arthritis in the affected family members is calcium pyrophosphate crystal deposition. The mode of inheritance appears to be autosomal dominant with a high degree of penetrance. The disease is characterized by onset in the second to fifth decades of either episodes of acute inflammatory arthritis or degenerative joint disease. A unique finding of this study was a "halo" surrounding chondrocytes in 1 patient's cartilage, demonstrating loss of the proteoglycans.
在一项对45名墨西哥 - 印第安血统家族中的成年人进行的研究中，发现22人（49%）有类似退行性关节病的关节症状。11名家庭成员有软骨钙质沉着症的影像学证据，1名成年人和3名青少年有与家族性关节病相符的临床病史和检查结果，但无疾病的影像学证据。受影响家庭成员中关节炎的病因是焦磷酸钙晶体沉积。遗传方式似乎是常染色体显性遗传，具有高度的外显率。该疾病的特征是在第二至第五个十年开始出现急性炎症性关节炎发作或退行性关节病。这项研究的一个独特发现是1名患者软骨中软骨细胞周围有一个“晕环”，表明蛋白聚糖丢失。
