临床儿科杂志 ›› 2024, Vol. 42 ›› Issue (2): 102-109.doi: 10.12372/jcp.2024.23e0769

• 论著 • 上一篇    下一篇

上海市儿童罕见病登记数据库建设和阶段性数据总结

李牛1, 李磊2, 陈会文3, 王剑3,4, 张浩2,3()   

  1. 1.国家儿童医学中心 上海交通大学医学院附属上海儿童医学中心遗传分子诊断科（上海 200127）
    2.国家儿童医学中心 上海交通大学医学院附属上海儿童医学中心临床研究管理中心（上海 200127）
    3.上海市儿童罕见病临床医学研究中心（上海 200127）
    4.上海交通大学医学院附属国际和平妇幼保健院（上海 200030）
  • 收稿日期:2023-08-15 出版日期:2024-02-15 发布日期:2024-02-02
  • 通讯作者: 张浩 电子信箱：drzhanghao@126.com
  • 基金资助:
    上海市 “科技创新行动计划”医学创新研究专项(20MC1920400)

Construction of the Shanghai children's rare disease registration database and summary of phased data

LI Niu1, LI Lei2, CHEN Huiwen3, WANG Jian3,4, ZHANG Hao2,3()   

  1. 1. Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, National Children’s Medical Center, Shanghai 200127, China
    2. Clinical Research Management Center, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, National Children’s Medical Center, Shanghai 200127, China
    3. Shanghai Clinical Research Center for Rare Pediatric Diseases, Shanghai 200127, China
    4. International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China
  • Received:2023-08-15 Online:2024-02-15 Published:2024-02-02

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摘要：

目的 总结上海市儿童罕见病登记数据库建设方案，并回顾性分析数据库中已收录患儿的人口学特征和疾病谱等资料，明确儿童罕见病病种分布特征，为建设高水平专病队列及系统管理罕见病患儿提供基础数据支持。方法 基于国家罕见病注册系统病种目录以及各病种数据集，建成联通医院信息系统的区域儿童罕见病登记数据库，对数据库中患儿数据进行描述性研究分析。结果 数据库1期共收录2008—2021年诊断的6 341例罕见病患儿，覆盖109种疾病。门诊和住院患儿占比分别为59.4%（3 764例）和40.6%（2 577例），男女性别比为1.36︰1；占比较高的病种主要包括朗格汉斯细胞组织细胞增生症（11.3%）、家族性扩张型心肌病（7.9%）、血友病（5.5%）和神经纤维瘤（5.4%）等。伴随高通量测序技术的广泛应用，明确诊断的儿童罕见病患者数量逐年增加，>80%的患儿在10岁之前可获得明确诊断。结论 本研究建立了同时纳入门诊和住院患儿的罕见病登记数据库，描述了儿童患者的疾病谱和人口学特征，并反映出中国近年来在这一领域的进步。该研究将为进一步纳入更多罕见病病种，并多中心建设更高水平儿童罕见病数据库提供基础数据。

关键词: 儿童罕见病, 登记数据库, 疾病谱, 描述性研究

Abstract:

Objective To summarize the construction plan of the Shanghai Children Rare Diseases Registry Database, and to retrospectively analyze the demographic characteristics and disease spectrum of the patients included in the database. We aim to clarify the distribution characteristics of rare diseases in children, and to provide data support for the construction of a high-level research-based patient cohort and the systematic management of patients with rare disease. Methods Based on the disease catalog from National Rare Diseases Registry System, we build a regional rare disease registration database that can connect to the hospital information system. Descriptive studies were conducted to analyze patient data in the database. Results A total of 6341 cases of rare disease patients diagnosed from 2008 to 2021 were included in the database, covering 109 kinds of diseases. The proportion of outpatients and inpatients was 59.4% (3764 cases) and 40.6% (2577 cases), respectively. The male to female ratio was 1.36∶1. Langerhans cell histiocytosis (11.3%), familial dilated cardiomyopathy (7.9%), hemophilia (5.5%), and neurofibroma (5.4%) accounted for the most cases. With the wide application of high-throughput sequencing technology, the number of pediatric rare disease patients with definite diagnosis has increased year by year, and more than 80% of children can get a clear diagnosis before the ten-year old. Conclusions The present study established a rare disease registry database that includes both outpatients and inpatients. We have described the disease spectrum and demographic characteristics of children with rare diseases, and also reflected the progress in the field of diagnosis of children’s rare diseases in recent years. This study will provide basic data support for further inclusion of more rare diseases and building a higher level database of children's rare diseases in multiple centers.

Key words: rare diseases in children, registration database, disease spectrum, descriptive research

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