ISSN 1674-3865  CN 21-1569/R
主管：国家卫生健康委员会
主办：中国医师协会
　　　辽宁省基础医学研究所
　　　辽宁中医药大学附属医院
中国中西医结合儿科学

中国中西医结合儿科学 ›› 2021, Vol. 13 ›› Issue (2): 180-.

• 调查研究 • 上一篇    

2015～2019年河南省儿童医院罕见病的分布特征分析

张耀东，罗淑颖，陈永兴，谭利娜，卫海燕   

  1. 450018 郑州，郑州大学附属儿童医院，河南省儿童医院，郑州儿童医院儿科,河南省儿童遗传代谢性疾病重点实验室
  • 出版日期:2021-04-25 发布日期:2021-05-18
  • 通讯作者: 张耀东，E-mail：etyynicu@sina.com
  • 作者简介:张耀东（1975-），男，医学博士，副主任医师。研究方向：新生儿脑损伤的诊治

Analysis of distribution characteristics of rare diseases in Henan Children's Hospital from 2015 to 2019

ZHANG Yaodong,LUO Shuying,CHEN Yongxing，TAN Lina，WEI Haiyan   

  1. Department of Pediatrics，Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou 450018, China
  • Online:2021-04-25 Published:2021-05-18

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摘要： 目的：分析河南省儿童医院罕见病住院患儿的分布特征，为儿童罕见病的流行病学研究提供科学依据。
方法：选择河南省儿童医院2015～2019年收治的1 104例罕见病患者病历进行描述性流行病学研究分析。
结果：罕见病患者平均年龄为30.87个月，平均年龄位于28.97～32.77个月年龄段，且年龄分布2015～2019年呈现逐年增加的趋势。儿童的各个时期常见罕见病类型不同，婴儿期、幼儿期、学龄前儿童的罕见病主要类型均为甲基丙二酸血症、先天性肾上腺皮质增生症，而学龄期儿童主要的罕见病有先天性肾上腺皮质增生症、肝豆状核变性。排名前三位的罕见病类型为甲基丙二酸血症、先天性肾上腺皮质增生、高氨血症，分别占罕见病患者的31.7%（350/1 104），21.7%（240/1 104），7.4%（82/1 104）。不同类型的罕见病中，男女比例差别较大，男女比最高的排名前五位的罕见病依次包括肾上腺脑白质营养不良、戊二酸血症、苯丙酮尿症、卡尔曼综合征、生物素依赖羧化酶缺乏。男女比最低的排名前五位的罕见病依次包括：多发性骨纤维发育不良伴性早熟综合征、瓦登伯格综合征、先天性高胰岛素血症、Ⅱ型糖原贮积症、尼曼皮克病。
结论：2015～2019年河南省儿童医院罕见病年龄分布呈现逐年增加的趋势，儿童的不同年龄段主要罕见病类型也不同。不同类型罕见病患者男女比例差别较大。

关键词: 罕见病, 分布情况, 描述性研究

Abstract: Objective：To analyze the distribution characteristics of inpatients with rare diseases in Henan Children's Hospital, and provide scientific basis for the epidemiological study of rare diseases in children.
Methods：The medical records of 1 104 rare disease patients admitted to Henan Children's Hospital from 2015 to 2019 were selected for descriptive epidemiological research and analysis.
Results：The average age of patients with rare diseases was 30.87 months, and the average age was in the age range of 28.97 to 32.77 months, and the age distribution showed an increasing trend from 2015 to 2019. The types of common rare diseases in children were different in each period. The main types of rare diseases in infants, early childhood, and preschool children were methylmalonic acidemia and congenital adrenal hyperplasia, while the main rare diseases in schoolage children were congenital adrenal hyperplasia，and hepatolenticular degeneration. The top three rare disease types were methylmalonic acidemia, congenital adrenal hyperplasia, and hyperammonemia, which accounted for 31.7%(350/1 104), 21.7%(240/1 104) and 7.4%(82/1 104), respectively in rare disease patients. Among different types of rare diseases, the ratio of men to women was quite different. The top five rare diseases with the highest ratio of men to women were in turn as follows: adrenal leukodystrophy, glutaric acidemia, phenylketonuria, Kalman syndrome, and biotin-dependent hydroxylase deficiency. The top five rare diseases with the lowest male to female ratio were in turn as follows: multiple fibrous dysplasia with precocious puberty syndrome, Wadenberg syndrome, congenital hyperinsulinemia, type II glycogen storage disease, and Niemann-Pick's disease.
Conclusion：From 2015 to 2019, the age distribution of rare diseases in Henan Children's Hospital showed an increasing trend year by year, and the main types of rare diseases in children were also different in different age groups. The ratio of men to women with different types of rare diseases is quite different.

Key words: Rare disease, Distribution, Descriptive research