Abstract：
BACKGROUND: Mixed connective tissue disease (MCTD) is a rare entity in children. There is a paucity of studies on juvenile-onset MCTD (jMCTD) worldwide especially from Southeast Asia.
OBJECTIVE: To describe clinical and laboratory features of jMCTD diagnosed at pediatric rheumatology centers across India.
METHODS: A predesigned detailed case proforma in an excel format was prepared and was sent to all the Pediatric Rheumatology centers in India. Eleven centers provided the clinical and laboratory data of their jMCTD patients, which was then compiled and analyzed in detail.
RESULTS: Thirty-one jMCTD patients from 11 centers were included in the study. Our cohort had 27 females and four male patients over 12 months (August 2021 to July 2022). The median age at presentation was 12 years (range 5-18 years) and the median duration of symptoms was 24 months at diagnosis (range 2-96 months). The common features included arthritis (90%), malar rash (70.9%), and Raynaud\'s phenomenon (70.9%). At a mean follow-up of 43 months (range 1-168 months), 45% of them were in remission. There were two deaths reported, due to macrophage activation syndrome and sepsis respectively.
CONCLUSIONS: We present the largest multicenter experience on jMCTD from the Indian subcontinent. The study\'s findings serve as a crucial stepping stone toward unraveling the complexities of jMCTD and improving patient care and management strategies.
OBJECTIVE: To describe clinical and laboratory features of jMCTD diagnosed at pediatric rheumatology centers across India.
METHODS: A predesigned detailed case proforma in an excel format was prepared and was sent to all the Pediatric Rheumatology centers in India. Eleven centers provided the clinical and laboratory data of their jMCTD patients, which was then compiled and analyzed in detail.
RESULTS: Thirty-one jMCTD patients from 11 centers were included in the study. Our cohort had 27 females and four male patients over 12 months (August 2021 to July 2022). The median age at presentation was 12 years (range 5-18 years) and the median duration of symptoms was 24 months at diagnosis (range 2-96 months). The common features included arthritis (90%), malar rash (70.9%), and Raynaud\'s phenomenon (70.9%). At a mean follow-up of 43 months (range 1-168 months), 45% of them were in remission. There were two deaths reported, due to macrophage activation syndrome and sepsis respectively.
CONCLUSIONS: We present the largest multicenter experience on jMCTD from the Indian subcontinent. The study\'s findings serve as a crucial stepping stone toward unraveling the complexities of jMCTD and improving patient care and management strategies.
摘要：
背景：混合性结缔组织病（MCTD）在儿童中是一种罕见的疾病。世界范围内，尤其是东南亚，对青少年发病的MCTD（jMCTD）的研究很少。
目的：描述在印度儿科风湿病中心诊断的jMCTD的临床和实验室特征。
方法：准备了Excel格式的预先设计的详细病例形式，并将其发送到印度的所有儿科风湿病中心。11个中心提供了他们的jMCTD患者的临床和实验室数据，然后进行了详细的编译和分析。
结果：研究纳入了来自11个中心的31名jMCTD患者。我们的队列有27名女性和4名男性患者超过12个月（2021年8月至2022年7月）。就诊时的中位年龄为12岁（范围5-18岁），诊断时的中位症状持续时间为24个月（范围2-96个月）。常见的特征包括关节炎（90%），黄斑皮疹（70.9%），和雷诺现象（70.9%）。平均随访43个月（范围1-168个月），其中45%处于缓解期。据报道有两人死亡，分别是由于巨噬细胞活化综合征和脓毒症。
结论：我们介绍了来自印度次大陆的jMCTD的最大多中心经验。该研究的发现是解开jMCTD复杂性并改善患者护理和管理策略的关键垫脚石。
目的：描述在印度儿科风湿病中心诊断的jMCTD的临床和实验室特征。
方法：准备了Excel格式的预先设计的详细病例形式，并将其发送到印度的所有儿科风湿病中心。11个中心提供了他们的jMCTD患者的临床和实验室数据，然后进行了详细的编译和分析。
结果：研究纳入了来自11个中心的31名jMCTD患者。我们的队列有27名女性和4名男性患者超过12个月（2021年8月至2022年7月）。就诊时的中位年龄为12岁（范围5-18岁），诊断时的中位症状持续时间为24个月（范围2-96个月）。常见的特征包括关节炎（90%），黄斑皮疹（70.9%），和雷诺现象（70.9%）。平均随访43个月（范围1-168个月），其中45%处于缓解期。据报道有两人死亡，分别是由于巨噬细胞活化综合征和脓毒症。
结论：我们介绍了来自印度次大陆的jMCTD的最大多中心经验。该研究的发现是解开jMCTD复杂性并改善患者护理和管理策略的关键垫脚石。
