To characterize the clinical features, genetic profiles, and long-term prognosis of chronic granulomatous disease (CGD) patients with neonatal onset.
Approach:
Study Design: Retrospective selection of CGD patients diagnosed using neutrophil respiratory burst tests and genetic analysis at Guangzhou Women and Children's Medical Center from January 2018 to September 2024.
Patient Selection: Included nine male patients diagnosed with neonatal-onset CGD.
Data Collection: Gathered clinical data, laboratory results, and follow-up outcomes from electronic medical records.
Key Findings:
Median age at onset was 20 days.
Pneumonia was observed in 88.9% of patients, with Aspergillus species detected in 62.5% of these cases.
All patients exhibited hemizygous variants in the CYBB gene.
Median hospital stay was 42 days, with three patients dying during initial hospitalization.
Long-term prognosis showed poor outcomes, but two patients achieved complete clinical remission after hematopoietic stem cell transplantation.
Interpretation:
Patients with neonatal-onset CGD predominantly have CYBB gene mutations, leading to severe clinical manifestations and a poor prognosis.
Limitations:
Small sample size of only nine patients.
Retrospective nature may limit the comprehensiveness of data.
Conclusion:
Neonatal-onset CGD is associated with severe clinical manifestations and high mortality.
