OBJECTIVES. To characterize the phenotypic presentation at diagnosis of childhood-onset primary Sjogren syndrome (SjS). METHODS. The Big Data Sjogren Project Consortium is an international, multicentre registry using worldwide data-sharing cooperative merging of pre-existing clinical SjS databases from the five continents. For this study, we selected those patients in whom the disease was diagnosed below the age of 19 according to the fulfilment of the 2002/2016 classification criteria. RESULTS. Among the 12,083 patients included in the Sjogren 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 ESSDAI domains containing the highest frequencies of active patients included the glandular (47%), articular (26%) and lymphadenopathy (25%) domains. Patients with childhood-onset primary SjS 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 central nervous system) in comparison with patients with adult-onset disease. CONCLUSIONS. Childhood-onset primary SjS involves around 1% of patients with primary SjS, with a clinical phenotype dominated by sicca features, parotid enlargement and systemic disease. Age at diagnosis plays a key role on modulating the phenotypic expression of the disease.

中文翻译：

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原发性干燥综合征综合症的儿童发病表型特征诊断158名儿童

目标 为了表征在诊断儿童期原发性干燥综合征（SjS）时的表型表现。方法。大数据Sjogren项目联盟是一个国际性的多中心注册表，使用了全球数据共享合作合并了来自五大洲的现有临床SjS数据库。在本研究中，我们选择了根据2002/2016分类标准得到诊断为19岁以下的疾病的患者。结果。在Sjogren大数据注册表中包括的12,083名患者中，有158名（1.3％）患有儿童期诊断（136名女孩，平均年龄为14.2岁）：126名（80％）报告为口干，111名（70％）报告为口干眼，腮腺肿大52（33％），小唾液腺活检阳性118/122（97％）和美国唾液异常研究60/64（94％），140/155（90％）阳性ANA，138/156（89％）抗Ro / La抗体和86/142（68％）阳性RF。包含活跃患者频率最高的全身性ESSDAI域包括腺体（47％），关节（26％）和淋巴结病（25％）域。患有儿童期原发性SjS的患者在12个ESSDAI域中有5个（体质，淋巴结病，腺体，皮肤和血液学）的最高ESSDAI评分和最高系统性疾病发生率，在4个（关节，肺，周围神经和中枢神经系统）与成年病患者的比较 结论。童年发作的原发性SjS涉及约1％的原发性SjS患者，其临床表型以干特征，腮腺肿大和全身性疾病为主。