Genetic testing results and clinical characteristics study of PICU patients with unknown pathogenesis
10.3760/cma.j.issn.1673-4912.2024.12.003
- VernacularTitle:致病原因不明的PICU患儿基因检测结果及临床特征研究
- Author:
Juan LIU
1
;
Yu ZHENG
;
Jiaotian HUANG
;
Ping ZANG
;
Zhenya YAO
;
Xiulan LU
Author Information
1. 中南大学湘雅医学院附属儿童医院（湖南省儿童医院）重症医学科，长沙 410007
- Publication Type:Journal Article
- Keywords:
Genetic testing;
Unclear cause;
Critical disease;
Pediatric intensive care unit
- From:
Chinese Pediatric Emergency Medicine
2024;31(12):894-899
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize and analyze the results of gene detection and clinical characteristics of children with unknown etiology in pediatric intensive care unit (PICU).Methods:The clinical data from children with unknown clinical diagnosis and completed the whole exon sequencing who were admitted to PICU at Hunan Children's Hospital from September 20,2014 to December 30,2018 were collected .According to the results of gene detection,patients were divided into positive gene test group and regative gene test group,and the clinical characteristics between two groups were compared.Results:A total of 58 cases were included,and 119 samples were sent for the whole exone sequencing (including samples from both children and their families).Pathogenic mutations were identified in 34 cases (58.6%),with 39 pathogenic genes detected.Three pathogenic genes were detected in one patient (1.7%),two pathogenic genes were detected in each of the three patients (5.2%),and one pathogenic gene was detected in each of the 30 patients (51.7%).Among the 39 pathogenic genes,18 genes(46.2%) were autosomal dominant,15 genes(38.5%) were autosomal recessive,four genes(10.3%) were X-linked recessive,and two genes(5.1%) were copy number variants .The proportion of congenital heart disease in positive gene test group was higher than that in negative gene test group（32.4% vs.8.3%，χ 2=4.668， P=0.031）,while there was no statistical difference in other clinical features（ P>0.05）.There was no significant difference in clinical characteristics between the positive gene test group and the negative gene test group among the death children ( P>0.05）.Among 58 cases,39 cases (67.2%) resulted in death,and the positive rate of genetic disease diagnosis of the dead children was 66.7%(26/39).The mortality rate of children with positive genetic test was 76.5%(26/34),22 cases (84.7%) died directly from genetic diseases,and four cases died indirectly. Conclusion:Genetic diseases are one of the important causes of death among children in PICU.The clinical characteristics of children with genetic diseases in PICU are complex and diverse,lacking specificity.The whole exon sequencing presents a high diagnosis rate in severe and fatal PICU patients.It is recommended that children with unknown etiology in PICU should undergo genetic testing,especially those with congenital heart disease,in order to help make a clear diagnosis and guide treatment.
