Shi Yu, Miao Shijian, Yuan Yuan, Fu Yang, Sun Chengjun, Wang Hongsheng, Ge MengMeng, Li Dongyun, Shen Guomei, Gao Xuan, Zhai Xiaowen
Outpatient and Emergency Management Office, National Children's Medical Center/Children's Hospital, Fudan University, Shanghai, China.
Department of Gastroenterology, National Children's Medical Center/Children's Hospital, Fudan University, Shanghai, China.
Front Public Health. 2024 Sep 17;12:1373649. doi: 10.3389/fpubh.2024.1373649. eCollection 2024.
A definite diagnosis goes undiscovered for a percentage of children with undiagnosed disorders, with significant medical, psychological, and social effects. Other than specialized clinical centers, exceptional molecular studies, common procedures, and devoted activities at the national and international levels, children with complex undiagnosed disorders require innovative approaches.
In March 2016, Children's hospital of Fudan university represented the Children's Undiagnosed Diseases Program (UDP). The purpose of this study is to describe the project findings and underline the critical significance of multidisciplinary teamwork in China's undiagnosed rare illnesses program. We investigated the 758 cases in our UDP system retrospectively. Demographic information, laboratory test results, and genetic information were gathered.
Between January 2017 and December 2021, 758 cases were examined. Males made up 436 (57.5%) of the total. Over half of the patients were children under the age of five. The average patient course time preceding admission to UDP was 6.0 months (95% CI 10.512.6). These patients visited an average of 1.8 clinics during their diagnostic journey. Except for 69 individuals (90.9%), all had more than one presenting symptom in various organs: 460 (60.7%) had neurology difficulties, 151 (19.9%) had endocrine problems, and 141 (18.6%) had immunology problems. UDP has a diagnosis rate of 61.3%. Genetic testing was performed on 469 of the 758 patients, for a genetic diagnosis rate of 15.8%. The UDP method has a sensitivity of 94.5%, a specificity of 86.4%, a positive predictive value of 92.8%, and an negative predictive value of 89.5%.
Our UDP targets an unmet need, namely the diagnosis of patients with complicated, multisystem illnesses. Using a multidisciplinary team model approach, this UDP pilot study achieved a reasonable diagnosis success rate, increasing the possibility of more diagnoses and new scientific discoveries of difficult and rare diseases.
一定比例患有未确诊疾病的儿童未得到明确诊断，这会产生重大的医学、心理和社会影响。除了专业临床中心、特殊分子研究、常规程序以及国家和国际层面的专门活动外，患有复杂未确诊疾病的儿童还需要创新方法。
2016年3月，复旦大学附属儿科医院代表儿童未确诊疾病项目（UDP）。本研究的目的是描述该项目的结果，并强调多学科团队合作在中国未确诊罕见病项目中的关键意义。我们对UDP系统中的758例病例进行了回顾性调查。收集了人口统计学信息、实验室检查结果和基因信息。
2017年1月至2021年12月期间，共检查了758例病例。男性占总数的436例（57.5%）。超过一半的患者为5岁以下儿童。患者入院前的平均病程时间为6.0个月（95%可信区间10.5至12.6）。这些患者在诊断过程中平均就诊1.8个科室。除69例（90.9%）外，所有患者在多个器官都有不止一种症状：460例（60.7%）有神经学问题，151例（19.9%）有内分泌问题，141例（18.6%）有免疫学问题。UDP的诊断率为61.3%。758例患者中的469例进行了基因检测，基因诊断率为15.8%。UDP方法的敏感性为94.5%，特异性为86.4%，阳性预测值为92.8%，阴性预测值为89.5%。
我们的UDP针对的是未满足的需求，即对患有复杂多系统疾病的患者进行诊断。通过多学科团队模式方法，这项UDP试点研究取得了合理的诊断成功率，增加了更多疑难罕见病诊断和新科学发现的可能性。
