Zulian F, Schumacher H R, Calore A, Goldsmith D P, Athreya B H
Department of Pediatrics, University of Padova, Italy.
Clin Exp Rheumatol. 1998 Jul-Aug;16(4):489-94.
Turner's syndrome (TS) is a disorder associated with characteristic defects in the X chromosome. Autoimmune conditions such as thyroiditis, inflammatory bowel diseases and diabetes have been described in association with TS.
We have studied the association between TS and juvenile arthritis (JA) by using a survey in which 28 pediatric rheumatology centers (15 in the USA, 10 in Europe, and 3 in Canada) participated.
Eighteen cases of TS in a population of approximately 15,000 JRA patients have been found. Two different patterns of arthritis were present: polyarticular (7) and oligoarticular (11). Children with polyarticular disease had early onset, seronegative, progressively deforming arthritis and growth retardation. Those with oligoarticular arthritis had a benign course and were ANA+ (8/11). The oligoarticular children had varying karyotypes whereas almost all of the polyarthritic patients shared the same 45X0 karyotype (6/7). The light and electron microscopic studies of synovium performed in two patients showed chronic inflammation and hyperplasia of the synovial lining cells, vascular proliferation and infiltration with lymphocytes, plasma cells and mononuclear phagocytes.
Juvenile arthritis is a new autoimmune condition association with Turner's syndrome. The prevalence seems to be at least six times greater than would be expected if the two conditions were only randomly associated. This is the first description of the synovium in Turner's syndrome; no differences from other forms of juvenile rheumatoid arthritis were found.
特纳综合征（TS）是一种与X染色体特征性缺陷相关的疾病。自身免疫性疾病如甲状腺炎、炎症性肠病和糖尿病已被描述为与TS有关。
我们通过一项调查研究了TS与青少年关节炎（JA）之间的关联，有28个儿科风湿病中心（美国15个、欧洲10个、加拿大3个）参与了该调查。
在大约15000例幼年类风湿关节炎（JRA）患者中发现了18例TS病例。存在两种不同的关节炎模式：多关节型（7例）和少关节型（11例）。多关节型疾病患儿发病早，血清阴性，关节炎进行性变形且生长发育迟缓。少关节型关节炎患儿病情良性，抗核抗体阳性（8/11）。少关节型患儿核型各异，而几乎所有多关节型患者都具有相同的45,X0核型（6/7）。对两名患者的滑膜进行光镜和电镜研究显示滑膜衬里细胞慢性炎症和增生、血管增生以及淋巴细胞、浆细胞和单核吞噬细胞浸润。
青少年关节炎是一种与特纳综合征相关的新的自身免疫性疾病。其患病率似乎至少比两种疾病仅随机相关时预期的高出六倍。这是对特纳综合征滑膜的首次描述；未发现与其他形式的幼年类风湿关节炎有差异。
