Objective: To analyze the diagnosis and treatment of children with rare diseases in the pediatric intensive care unit (PICU), the distribution of disease types and populations, clinical characteristics, and the use of orphan drugs. Methods: A retrospective case summary was conducted. Data were collected from 105 children aged 29 days to <18 years with a confirmed diagnosis of rare diseases according to the "First Batch of Rare Disease Catalogue in China" who were admitted to the PICU of Beijing Children's Hospital, Capital Medical University from January 2020 to December 2022. Data including general information, auxiliary examinations, and treatment details for each patient were collected from the hospital's electronic medical record system. Patients were divided into age groups: infancy (29 days to<1 year), early childhood (1 to <3 years), preschool age (3 to<7 years), school age (7 to<13 years), and adolescence (13 to<18 years). The chi-square test was used to compare gender distribution differences among various rare diseases. Results: A total of 105 patients with 130 cases meeting the diagnostic criteria were included, accounting for 4.7% (130/2 754) of the total admissions to the PICU. The age at PICU admission was 5.3 (0.8, 9.5) years and there were 81 cases in male. The 3 most common types of diseases were endocrine, nutritional, and metabolic diseases (37 cases); followed by neurological disorders(32 cases); and congenital malformations, deformities, and chromosomal abnormalities(17 cases). The 5 most common rare diseases were methylmalonic acidemia (14 cases), mitochondrial encephalomyopathy (14 cases), atypical hemolytic uremic syndrome (12 cases), autoimmune encephalitis (12 cases), and idiopathic cardiomyopathy (9 cases). The distributions of common rare diseases varied among different age groups. In infants, atypical hemolytic uremic syndrome was most common (6 children). There was no statistically significant difference regarding gender among children with mitochondrial encephalomyopathy (13.6% (11/81) vs. 6.1% (3/49), χ2=1.77, P=0.184). Respiratory failure (36 cases) was the primary reason for rare diseases children to be admitted to the PICU. A total of 95 cases underwent mechanical ventilation, 39 cases received multidisciplinary collaborative diagnosis and treatment, and only 6 children received orphan drug therapy during their stay in the PICU. Conclusions: Rare diseases are not uncommon in PICU. Endocrine, nutritional and metabolic disorders, neurological disorders, congenital malformations, deformities, and chromosomal abnormalities were common. Methylmalonic acidemia, mitochondrial encephalomyopathy, atypical hemolytic uremic syndrome and autoimmune encephalitis have higher cases. Many children with rare diseases in the PICU have complex conditions those are challenging to treat, requiring multidisciplinary collaboration. The utilization rate of orphan drugs among children with rare diseases in PICU needs to be improved.
目的： 分析儿童重症监护病房（PICU）中罕见病患儿收治情况，了解其病种和人群分布、临床特点、孤儿药使用情况等。 方法： 回顾性病例总结。收集2020年1月至2022年12月首都医科大学附属北京儿童医院PICU收治的符合“中国第一批罕见病目录”明确诊断的105例29日龄至<18岁患儿的一般资料、辅助检查、治疗情况等。按年龄分为婴儿期29日龄至<1岁、幼儿期1~<3岁、学龄前期3~<7岁、学龄期7~<13岁、青春期13~<18岁。采用χ2检验比较各罕见病病种的性别分布差异。 结果： 共纳入符合诊断标准的患儿105例，130例次，占PICU住院患儿总例次的4.7%（130/2 754），入住PICU年龄为5.3（0.8，9.5）岁，其中男81例次，女49例次。收治较多的前3类疾病为内分泌、营养和代谢疾病（37例次），神经系统疾病（32例次），先天性畸形、变形和染色体异常疾病（17例次）。收治最多的前5位罕见病为甲基丙二酸血症（14例次）、线粒体脑肌病（14例次）、非典型溶血尿毒综合征（12例次）、自身免疫性脑炎（12例次）、特发性心肌病（9例次）。不同年龄组患儿常见罕见病不同，其中婴儿期以非典型溶血尿毒综合征最多见（6例）。线粒体脑肌病患儿性别差异无统计学意义［13.6%（11/81）比6.1%（3/49），χ2=1.77，P=0.184］。呼吸衰竭（36例次）为罕见病患儿入住PICU最主要原因，共95例次患儿使用机械通气，39例次患儿在PICU住院期间进行多学科协同诊疗。仅6例在PICU住院期间应用孤儿药治疗。 结论： 罕见病在PICU中并不罕见，以内分泌、营养和代谢疾病、神经系统疾病、先天性畸形、变形和染色体异常疾病常见，其中甲基丙二酸血症、线粒体脑肌病、非典型溶血尿毒综合征、自身免疫性脑炎收治较多。许多患儿病情复杂，治疗难度大，需多学科协作，PICU罕见病患儿中孤儿药使用率有待提高。.