Department of Paediatrics and Autoinflammation reference Center Tuebingen (arcT), Universitatsklinikum Tubingen, Tubingen, Baden-Württemberg, Germany.
Centre for Interdisciplinary Clinical Immunology, Rheumatology and Auto-inflammatory Diseases and Department of Internal Medicine II (Oncology, Haematology, Immunology and Rheumatology), Universitatsklinikum Tubingen, Tubingen, Baden-Württemberg, Germany.
RMD Open. 2024 Jul 14;10(3):e004381. doi: 10.1136/rmdopen-2024-004381.
To evaluate the long-term effectiveness and safety of autologous haematopoiesis stem cell transplantation (AHSCT) for severe, refractory autoimmune diseases in paediatric patients.
A single-centre study of consecutive children and adolescents with refractory autoimmune diseases undergoing AHSCT was performed. Demographics, clinical, laboratory features, pre-AHSCT medications, disease activity and functional status were captured. The primary outcome was progression-free survival, secondary outcomes included overall survival, disease-specific treatment responses, disease activity at the last follow-up and AHSCT safety.
The study included seven patients: two systemic sclerosis, one pansclerotic morphoea, one eosinophilic fasciitis, one juvenile dermatomyositis and two patients with systemic juvenile idiopathic arthritis; four women, three men median age at AHSCT of 10 years (7-19), median follow-up post-AHSCT of 17 years. Median progression-free survival and overall survival was 4.2 years (95% CI: 0.98 to 8.3) and 17 years (95% CI: 11.8 to 22.1), respectively. Progression-free survival rates at 1 and 2 years post-AHSCT were 100% and 77%, respectively. All children survived. All patients are in clinical remission, only four require ongoing immunotherapy.
Three experienced infections, including HHV6, Candida and Ralstonia sepsis; one developed a systemic inflammatory response syndrome; two new onset secondary autoimmune diseases including autoimmune haemolytic anaemia, Graves' disease and one was found to have a breast fibroadenoma. Treatment toxicity: one cyclophosphamide-associated transient renal failure and pericardial effusion, one patient with amenorrhoea/infertility.
AHSCT was an effective and safe approach for children and adolescents with treatment-refractory autoimmune diseases. The indication and timing of transplantation requires a careful consideration and a multidisciplinary approach.
评估自体造血干细胞移植（AHSCT）治疗儿童严重、难治性自身免疫性疾病的长期疗效和安全性。
对接受 AHSCT 的难治性自身免疫性疾病儿童和青少年进行单中心研究。记录人口统计学、临床、实验室特征、AHSCT 前药物、疾病活动度和功能状态。主要结局是无进展生存率，次要结局包括总生存率、疾病特异性治疗反应、最后一次随访时的疾病活动度和 AHSCT 安全性。
研究纳入 7 例患者：2 例系统性硬化症、1 例泛发性硬皮病、1 例嗜酸性筋膜炎、1 例幼年特发性皮肌炎和 2 例全身型幼年特发性关节炎；女性 4 例，男性 3 例，AHSCT 时年龄中位数为 10 岁（7-19 岁），AHSCT 后中位随访时间为 17 年。中位无进展生存率和总生存率分别为 4.2 年（95%CI：0.98 至 8.3）和 17 年（95%CI：11.8 至 22.1）。AHSCT 后 1 年和 2 年的无进展生存率分别为 100%和 77%。所有患儿均存活，所有患儿均处于临床缓解状态，仅 4 例仍需持续免疫治疗。
3 例患儿发生感染，包括 HHV6、念珠菌和罗尔斯顿菌败血症；1 例发生全身炎症反应综合征；2 例新发生自身免疫性疾病，包括自身免疫性溶血性贫血、格雷夫斯病，1 例发现乳腺纤维腺瘤。治疗毒性：1 例环磷酰胺相关短暂肾功能衰竭和心包积液，1 例患者出现闭经/不孕。
AHSCT 是治疗儿童和青少年难治性自身免疫性疾病的有效且安全的方法。移植的适应证和时机需要仔细考虑和多学科方法。
