Athreya B H, Schumacher H R, Getz H D, Norman M E, Borden S, Witzleben C L
Arthritis Rheum. 1983 Jun;26(6):728-35. doi: 10.1002/art.1780260605.
We describe 3 children with Lowe's syndrome who developed joint manifestations--a previously rarely recognized feature. Two children had swelling and contractures of large and small joints; the third child had a small joint effusion and hypermobile joints. None of them had antinuclear antibody or rheumatoid factor; synovial effusions and biopsies showed no evidence of inflammatory cell infiltration. By light microscopy, profuse fibrous tissue and sparse synovial lining cells were found. Electron microscopy of the synovium of 2 patients showed large amounts of normal appearing collagen, unidentified thin fibrils, and focal profuse granular and fibrillar basement membrane-like material around small vessels, similar to findings described in other tissues in this syndrome. Whether these clinical and pathologic findings are results of the still incompletely understood basic metabolic defect or not, they should be recognized as features that may be seen in patients with Lowe's syndrome.
我们描述了3例患有洛氏综合征的儿童，他们出现了关节表现——这是一种此前很少被认识到的特征。两名儿童出现了大小关节的肿胀和挛缩；第三名儿童有小关节积液和关节活动过度。他们均无抗核抗体或类风湿因子；滑膜积液和活检未显示炎症细胞浸润的证据。通过光学显微镜检查，发现大量纤维组织和稀疏的滑膜衬里细胞。对2例患者滑膜的电子显微镜检查显示，有大量外观正常的胶原蛋白、不明细纤维，以及小血管周围局灶性大量颗粒状和纤维状基底膜样物质，这与该综合征其他组织中描述的发现相似。无论这些临床和病理发现是否是仍未完全理解的基本代谢缺陷的结果，它们都应被视为洛氏综合征患者可能出现的特征。
