Characteristics and management of pediatric patients with a genetic disorder and malformations in a pediatric emergency department
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| Formato: | Artículo Open Access |
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Wiley
2025
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| _version_ | 1867010168862015488 |
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| author | Takaaki Mori Kenta Sugiura Osamu Nomura Hiroshi Futagawa Hiroshi Yoshihashi |
| author_facet | Takaaki Mori Kenta Sugiura Osamu Nomura Hiroshi Futagawa Hiroshi Yoshihashi Takaaki Mori Kenta Sugiura Osamu Nomura Hiroshi Futagawa Hiroshi Yoshihashi |
| collection | Wiley Open Access |
| contents | Characteristics and management of pediatric patients with a genetic disorder and malformations in a pediatric emergency department Takaaki Mori Kenta Sugiura Osamu Nomura Hiroshi Futagawa Hiroshi Yoshihashi Pediatrics International Abstract Background Genetic diseases are associated with a high mortality rate. Although numerous studies have examined this topic in pediatric patients in the pediatric intensive care setting, related data from the pediatric emergency care setting are scarce. Objectives The present study aimed to describe the characteristics and management of pediatric patients with a genetic disorder and malformations in a pediatric emergency department (ED). Methods The present, retrospective study was conducted at a tertiary children's hospital in Japan. The medical records of patients with a previously diagnosed genetic disorder who presented to the ED of the study center between January 1 and June 30, 2019, were reviewed. Patients with an uncertain diagnosis who visited the ED for follow‐up consultation were excluded. Results During the study period, 17,856 patients had visited the ED. Of these, 2094 had a genetic disorder. Forty‐three patients were excluded, and 2051 patients were included in the final analysis. The median age was 46 months (interquartile range [IQR]: 19–96 months). The most common genetic disorder was isolated malformation (56.4%), followed by chromosomal abnormalities, multiple malformations, and single‐gene disorders at 11.7%, 10.4%, and 10.1%, respectively. Common diagnostic categories were infectious diseases (25.9%), GI diseases (14.1%), and trauma (11.2%). The admission rate was 19.5%, and the median length of hospitalization was 7 days (IQR: 4–11 days). The mortality rate was only 0.2%. Conclusion Pediatric patients with a genetic disorder had a high admission rate and a long period of hospitalization, but their mortality rate was relatively low. 10.1111/ped.70091 http://onlinelibrary.wiley.com/termsAndConditions#vor |
| doi_str_mv | 10.1111/ped.70091 |
| format | Artículo Open Access |
| id | wiley_oa_10_1111_ped_70091 |
| institution | Wiley Open Access |
| license_str_mv | http://onlinelibrary.wiley.com/termsAndConditions#vor |
| publishDate | 2025 |
| publisher | Wiley |
| record_format | wiley_oa |
| spellingShingle | Characteristics and management of pediatric patients with a genetic disorder and malformations in a pediatric emergency department Takaaki Mori Kenta Sugiura Osamu Nomura Hiroshi Futagawa Hiroshi Yoshihashi Pediatrics International Characteristics and management of pediatric patients with a genetic disorder and malformations in a pediatric emergency department Takaaki Mori Kenta Sugiura Osamu Nomura Hiroshi Futagawa Hiroshi Yoshihashi Pediatrics International Abstract Background Genetic diseases are associated with a high mortality rate. Although numerous studies have examined this topic in pediatric patients in the pediatric intensive care setting, related data from the pediatric emergency care setting are scarce. Objectives The present study aimed to describe the characteristics and management of pediatric patients with a genetic disorder and malformations in a pediatric emergency department (ED). Methods The present, retrospective study was conducted at a tertiary children's hospital in Japan. The medical records of patients with a previously diagnosed genetic disorder who presented to the ED of the study center between January 1 and June 30, 2019, were reviewed. Patients with an uncertain diagnosis who visited the ED for follow‐up consultation were excluded. Results During the study period, 17,856 patients had visited the ED. Of these, 2094 had a genetic disorder. Forty‐three patients were excluded, and 2051 patients were included in the final analysis. The median age was 46 months (interquartile range [IQR]: 19–96 months). The most common genetic disorder was isolated malformation (56.4%), followed by chromosomal abnormalities, multiple malformations, and single‐gene disorders at 11.7%, 10.4%, and 10.1%, respectively. Common diagnostic categories were infectious diseases (25.9%), GI diseases (14.1%), and trauma (11.2%). The admission rate was 19.5%, and the median length of hospitalization was 7 days (IQR: 4–11 days). The mortality rate was only 0.2%. Conclusion Pediatric patients with a genetic disorder had a high admission rate and a long period of hospitalization, but their mortality rate was relatively low. 10.1111/ped.70091 http://onlinelibrary.wiley.com/termsAndConditions#vor |
| title | Characteristics and management of pediatric patients with a genetic disorder and malformations in a pediatric emergency department |
| topic | Pediatrics International |
| url | https://onlinelibrary.wiley.com/doi/10.1111/ped.70091 |