Ramos-Casals Manuel, Acar-Denizli Nihan, Vissink Arjan, Brito-Zerón Pilar, Li Xiaomei, Carubbi Francesco, Priori Roberta, Toplak Nataša, Baldini Chiara, Faugier-Fuentes Enrique, Kruize Aike A, Mandl Thomas, Tomiita Minako, Gandolfo Saviana, Hashimoto Kunio, Hernandez-Molina Gabriela, Hofauer Benedikt, Mendieta-Zerón Samara, Rasmussen Astrid, Sandhya Pulukool, Sene Damien, Trevisani Virginia Fernandes Moça, Isenberg David, Sundberg Erik, Pasoto Sandra G, Sebastian Agata, Suzuki Yasunori, Retamozo Soledad, Xu Bei, Giacomelli Roberto, Gattamelata Angelica, Bizjak Masa, Bombardieri Stefano, Loor-Chavez Richard-Eduardo, Hinrichs Anneline, Olsson Peter, Bootsma Hendrika, Lieberman Scott M
Department of Autoimmune Diseases, ICMiD, Hospital Clínic.
Sjögren Syndrome Research Group (AGAUR), Laboratory of Autoimmune Diseases Josep Font, IDIBAPS-CELLEX.
Rheumatology (Oxford). 2021 Oct 2;60(10):4558-4567. doi: 10.1093/rheumatology/keab032.
To characterize the phenotypic presentation at diagnosis of childhood-onset primary SS.
The Big Data Sjögren Project Consortium is an international, multicentre registry using worldwide data-sharing cooperative merging of pre-existing clinical SS databases from the five continents. For this study, we selected those patients in whom the disease was diagnosed below the age of 19 years according to the fulfilment of the 2002/2016 classification criteria.
Among the 12 083 patients included in the Sjögren Big Data Registry, 158 (1.3%) patients had a childhood-onset diagnosis (136 girls, mean age of 14.2 years): 126 (80%) reported dry mouth, 111 (70%) dry eyes, 52 (33%) parotid enlargement, 118/122 (97%) positive minor salivary gland biopsy and 60/64 (94%) abnormal salivary US study, 140/155 (90%) positive ANA, 138/156 (89%) anti-Ro/La antibodies and 86/142 (68%) positive RF. The systemic EULAR Sjögren's syndrome disease activity index (ESSDAI) domains containing the highest frequencies of active patients included the glandular (47%), articular (26%) and lymphadenopathy (25%) domains. Patients with childhood-onset primary SS showed the highest mean ESSDAI score and the highest frequencies of systemic disease in 5 (constitutional, lymphadenopathy, glandular, cutaneous and haematological) of the 12 ESSDAI domains, and the lowest frequencies in 4 (articular, pulmonary, peripheral nerve and CNS) in comparison with patients with adult-onset disease.
Childhood-onset primary SS involves around 1% of patients with primary SS, with a clinical phenotype dominated by sicca features, parotid enlargement and systemic disease. Age at diagnosis plays a key role in modulating the phenotypic expression of the disease.
描述儿童期起病的原发性干燥综合征（SS）诊断时的表型特征。
大数据干燥综合征项目联盟是一个国际多中心注册机构，利用全球数据共享合作，合并了来自五大洲的现有临床SS数据库。在本研究中，我们根据2002/2016分类标准的满足情况，选择了那些在19岁以下被诊断出患有该疾病的患者。
在干燥综合征大数据注册中心纳入的12083例患者中，158例（1.3%）患者诊断为儿童期起病（136例女孩，平均年龄14.2岁）：126例（80%）报告有口干，111例（70%）有眼干，52例（33%）有腮腺肿大，118/122例（97%）小唾液腺活检阳性，60/64例（94%）唾液超声检查异常，140/155例（90%）抗核抗体（ANA）阳性，138/156例（89%）抗Ro/La抗体阳性，86/142例（68%）类风湿因子（RF）阳性。欧洲抗风湿病联盟（EULAR）干燥综合征疾病活动指数（ESSDAI）中活跃患者频率最高的领域包括腺体（47%）、关节（26%）和淋巴结病（25%）领域。与成人起病的患者相比，儿童期起病的原发性SS患者在12个ESSDAI领域中的5个（体质、淋巴结病、腺体、皮肤和血液学）领域表现出最高的平均ESSDAI评分和最高的系统性疾病频率，而在4个（关节、肺部、周围神经和中枢神经系统）领域频率最低。
儿童期起病的原发性SS约占原发性SS患者的1%，临床表型以干燥症状、腮腺肿大和系统性疾病为主。诊断时的年龄在调节疾病的表型表达中起关键作用。
