Clinical and genetic characteristics of eleven neonates with chronic granulomatous disease
10.3760/cma.j.issn.2096-2932.2023.10.009
- VernacularTitle:新生儿慢性肉芽肿病11例临床表现及基因特征分析
- Author:
Yanhua SHEN
1
;
Fei JIN
;
Hailan WU
;
Xu ZHENG
;
Lu CHEN
;
Mingyan HEI
Author Information
1. 国家儿童医学中心，首都医科大学附属北京儿童医院新生儿中心，北京 100045
- Keywords:
Chronic granuloma;
Gene;
Prophylactic drugs;
Newborn
- From:Chinese Journal of Neonatology
2023;38(10):621-625
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To study the clinical characteristics, diagnostic methods and genotypes of neonatal chronic granulomatous disease(CGD).Methods:From April 2013 to August 2020, neonates admitted to our hospital, diagnosed with neonatal CGD and confirmed using neutrophil respiratory burst test and genetic testing were retrospectively studied. Their clinical characteristics and diagnostic methods were summarized.Results:A total of eleven neonates with CGD were enrolled, including ten males and one female. The age of onset was 3-23 d and the age of admission was 11-28 d. 3 cases had family history. The initial symptoms were fever (10 cases) and coughing (1 case). The accompanying symptoms included coughing (6 cases), dyspnea (4 cases), skin pustules (3 cases), fever (1 case) and diarrhea (1 case). Lung CT showed patchy shadows (6 cases), pulmonary nodules (3 cases), round and irregular high-density shadow (1 case), pulmonary consolidation (1 case), pleural effusion (1 case) and pleural thickening (2 cases). CGD was pathologically diagnosed in one patient. Sputum culture showed Candida albicans (3 cases), Aspergillus fumigatum (2 cases), Aspergillus fumigatum combined with Klebsiella pneumoniae and Escherichia coli (1 case), Aspergillus fumigatum combined with Staphylococcus aureus (1 case). GM tests were positive in two cases and negative in other two cases. Blood and cerebrospinal fluid cultures were negative. White blood cell counts were (10.0-44.0)×10 9/L and C-reactive proteins were (14-165) mg/L. 11 cases had positive neutrophil respiratory burst test. Genetic tests showed CYBB gene mutations (9 cases) , NCF1 gene mutation(1 case) and NCF2 gene mutation (1 case). All cases received antibacterial and antifungal treatments for 2-5 weeks and were discharged with improvement. 8 patients survived, 5 received hematopoietic stem cell transplantation, 4 succeeded and one failed and continued to survive on oral medication. 3 cases took sulfamethoxazole, voriconazole or itraconazole orally for long periods. 3 cases died of severe infections after withdrawal of medication. Conclusions:Neonatal CGD is characterized by lung infections. Pulmonary CT shows mostly nodular or patchy shadows with occasional pulmonary consolidation or pleural effusion. It can be diagnosed by neutrophil respiratory burst test and genetic testing. X-linked CYBB gene mutations are common and autosomal recessive NCF1/NCF2 gene mutations less common.
