Genetic Diseases and Invasive Infections in Infants 100 Days or Younger

Author:

Zhu Tianwen1,Bei Fei2,He Ruoqi1,Gong Xiaohui3,Chen Yan1,Yin Zhanghua1,Wang Jian4,Sun Yu5,Zhang Yongjun1ORCID

Affiliation:

1. Department of Neonatology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

2. Department of Neonatology, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China

3. Department of Neonatology, Shanghai Children’s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

4. Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China

5. Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai, China.

Abstract

Background: Understanding the association of genetic diseases with invasive infections in neonates or infants is important, given the clinical and public health implications of genetic diseases. Methods: We conducted a retrospective case-control study over a 5-year period to investigate the association between genetic diseases and invasive infections in neonates or infants. The case group included 56 patients with laboratory-confirmed invasive infections and a genetic etiology identified by exome sequencing. Another 155 patients without a genetic etiology were selected as controls from the same pool of patients. Results: An overview of genetic diseases that predispose patients to develop invasive infections were outlined. We identified 7 independent predictors for genetic conditions, including prenatal findings [adjusted odds ratio (aOR), 38.44; 95% confidence interval (CI): 3.94–374.92], neonatal intensive care unit admission (aOR, 46.87; 95% CI: 6.30–348.93), invasive ventilation (aOR, 6.66; 95% CI: 3.07–14.46), bacterial infections (aOR, 0.21; 95% CI: 0.06–0.69), fever (aOR, 0.15; 95% CI: 0.08–0.30), anemia (aOR, 6.64; 95% CI: 3.02–14.59) and neutrophilia (aOR, 0.98; 95% CI: 0.96–0.99). The area under the curve for the predictive model was 0.921 (95% CI: 0.876–0.954). We also found that a genetic etiology [hazard ratio (HR), 7.25; 95% CI: 1.71–30.81], neurological manifestations (HR, 3.56; 95% CI: 1.29–9.88) and septic shock (HR, 13.83; 95% CI: 3.18–60.10) were associated with severe outcomes. Conclusions: Our study established predictive variables and risk factors for an underlying genetic etiology and its mortality in neonates or infants with invasive infections. These findings could lead to risk-directed screening and treatment strategies, which may improve patient outcomes.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Infectious Diseases,Microbiology (medical),Pediatrics, Perinatology and Child Health

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