目的:为了描述表型,病程,和治疗结节病患儿的大队列。
方法:活检符合结节病的患者,在2010年至2020年期间进行,纳入本研究。对患者的记录进行回顾性回顾。将5岁之前发病的儿童与年龄较大的儿童进行比较。进行回归分析以确定治疗结果的预测因子。
结果:总计,48名诊断平均年龄为9.5岁的儿童,男女比例为0.71,被确定。总的来说,72%的儿童是黑人,94%患有多器官疾病,平均涉及4.8个器官,最常见的淋巴结(65%),皮肤(63%),眼睛(60%)。值得注意的实验室发现包括23%的患者血清钙升高,76%的患者血管紧张素转换酶升高。在接受测试的14名患者中,6在NOD2中有突变。总的来说,81%的患者接受了全身性类固醇,90%的患者接受了常规的疾病缓解抗风湿药(DMARDs);在25%的患者中,添加了一种生物制剂,主要是抗肿瘤坏死因子(anti-TNF)。尽管大多数患者可以戒除类固醇(58%),大多数人仍然使用长期DMARDs(85%)。5岁以下儿童更常出现脾肿大(P=0.001),脾脏受累(P=0.003),和较高的C反应蛋白(P=0.10)。体重减轻在青少年中更为常见(P=0.006)。肾脏(P=0.004),眼睛(P=0.005),肝脏受累(P=0.03)在Black患者中更为常见。回归分析没有发现与积极治疗结果相关的单因素。
结论:多器官受累,对类固醇的反应,慢性病程是小儿结节病的标志。表型因年龄和种族而异。在常规DMARDs无效的地方,添加抗TNF药物是有益的.
To describe the phenotype, disease course, and treatment of a large cohort of children with sarcoidosis.
Patients with biopsies consistent with sarcoidosis, performed between 2010 and 2020, were included in this study. Patients\' notes were reviewed retrospectively. Children with disease onset before 5 years of age were compared with older children. Regression analysis was performed to determine predictors of treatment outcome.
In total, 48 children with a mean age at diagnosis of 9.5 years, with a male to female ratio of 0.71, were identified. In total, 72% of the children were of Black race and 94% had multiorgan disease, with an average of 4.8 organs involved, most commonly lymph nodes (65%), skin (63%), and eyes (60%). Laboratory findings of note included raised serum calcium in 23% of patients and raised angiotensin-converting enzyme in 76% of patients. Out of 14 patients tested, 6 had mutations in NOD2. In total, 81% of patients received systemic steroids and 90% received conventional disease-modifying antirheumatic drugs (DMARDs); in 25% of patients, a biologic was added, mostly anti-tumor necrosis factor (anti-TNF). Although most patients could be weaned off steroids (58%), most remained on long-term DMARDs (85%). Children under the age of 5 years presented more often with splenomegaly (P = 0.001), spleen involvement (P = 0.003), and higher C-reactive protein (P = 0.10). Weight loss was more common in adolescents (P = 0.006). Kidney (P = 0.004), eye (P = 0.005), and liver involvement (P = 0.03) were more common in Black patients. Regression analysis identified no single factor associated with positive treatment outcomes.
Multiorgan involvement, response to steroids, and chronic course are hallmarks of pediatric sarcoidosis. The phenotype significantly varies by age and race. Where conventional DMARDs were not efficacious, the addition of an anti-TNF agent was beneficial.