Barriers to translational research in Sjogren's syndrome with childhood onset: challenges of recognising and diagnosing an orphan rheumatic disease
Barriers to translational research in Sjogren's syndrome with childhood onset: challenges of recognising and diagnosing an orphan rheumatic disease
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DOI：
10.1016/s2665-9913(20)30393-3
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发表时间：
2021-01-28
影响因子：
25.4
通讯作者：
Price, Elizabeth J.
中科院分区：
文献类型：
--
作者：
Ciurtin, Coziana;Cho, Youna;Price, Elizabeth J.
Sj？gren？S综合征是一种自身免疫性风湿性疾病，其特征是外分泌腺的慢性淋巴细胞浸润，导致干燥（例如，口腔，眼睛，呼吸道和阴道），这被认为是该疾病的主要症状。gren？s综合征是不清楚的，因为各种分类标准和研究方法，但它的范围从2？48比20？10例患者每10 000名居民，根据一项荟萃分析。gren？S综合征在不同患者中的表现，特别是与他们的疾病发作（在儿科与成人年龄内）相关的表现，反映在开发普遍适用的分类标准的困难上。Sj？gren？S综合征在成人中比在儿童中特征更好。成人一般人群的估计患病率为0？09年？一个？60%。3，4如果发病年龄在18岁之前，患者被描述为患有幼年型Sj？gren？S综合征或儿童Sj？gren？s综合征。几乎没有流行病学Sj？gren？S综合征多年来被认为是一种成年期疾病，其特征是外分泌腺的免疫浸润，导致干燥（例如，口干和眼干），这是一种主要症状。在过去的20年里，很明显，虽然这种疾病是非常罕见的儿童，其临床表现不同于成人，构成了重大挑战的识别，诊断和儿童期发病的Sj患者的分类？gren？s综合征。本观点探讨比较分类标准的儿童（未经验证）和成人与Sj？gren？的综合征，以及儿童期发病与成人发病的Sj？gren？的综合征，提供有关我们如何可以提高诊断的Sj的想法？gren？s综合征。回顾病史和临床评估，血清学，腺体功能评估，影像学，以及唾液腺和泪腺活检的诊断与儿童Sj的作用？gren？S综合征。此外，我们还提供了进一步研究和登记数据收集的建议，以解决这些患者未满足的需求。
Sj?gren?s syndrome is an autoimmune rheumatic disease characterised by chronic lymphocytic infiltration of the exocrine glands, leading to dryness (eg, of the mouth, eyes, respiratory tract, and vagina) that is considered the main symptom of the disease.1 The true prevalence of Sj?gren?s syndrome is unclear because of the various classification criteria and study methods used, but it ranges from 2?48 to 20?10 patients per 10 000 inhabitants, according to one meta-analysis.2 The variability of Sj?gren?s syndrome mani festations in different patients, particularly related to their disease onset (within paedi atric versus adult age) is reflected in the difficulty of developing universally applicable classification criteria. Sj?gren?s syndrome is better characterised in adults than it is in children. The estimated prevalence in the adult general population is 0?09?1?60%.3,4 If the disease onset is before 18 years of age, patients are described as having juvenile Sj?gren?s syndrome or childhood Sj?gren?s syndrome. There are almost no epidemiologicalSj?gren?s syndrome was considered for many years a disease of adulthood, characterised by immune infiltration of exocrine glands, leading to dryness (eg, dry mouth and eyes), which is a cardinal symptom. As of the last 20 years, it became apparent that although the disease is very rare in children, its clinical presentation differs from that of adults, posing substantial challenges to the recognition, diagnosis, and classification of patients with childhood-onset Sj?gren?s syndrome. This Viewpoint explores comparative classification criteria for children (not validated) and adults with Sj?gren?s syndrome, as well as differences in the clinical presentation of childhood-onset versus adult-onset Sj?gren?s syndrome, offering ideas about how we can improve the diagnosis of Sj?gren?s syndrome in children. A review of the role of medical history and clinical assessment, serology, glandular function assessment, and imaging, as well as salivary and lachrymal gland biopsy in the diagnosis of children with Sj?gren?s syndrome is included. Additionally, we provide suggestions about further research and registry data collection that is required to address the unmet needs of these patients.