Clinical and genetic characteristics of Chinese pediatric patients with chronic granulomatous disease.
Pediatr Allergy Immunol
; 30(3): 378-386, 2019 05.
Article
en En
| MEDLINE
| ID: mdl-30716179
ABSTRACT
BACKGROUND:
Chronic granulomatous disease (CGD) is a rare disease in China, and very little large-scale studies have been conducted to date. We aimed to investigate the clinical and genetic features of CGD in Chinese pediatric patients.METHODS:
Pediatric patients with CGD from Beijing Children's Hospital, Capital Medical University, China, were enrolled from January 2006 to December 2016.RESULTS:
A total of 159 pediatric patients with CGD were enrolled. The median age of clinical onset was 1.4 months, and 73% (116/159) had clinical onset symptoms before the 1 year of age. The most common site of invasion was the lungs. The lymph nodes, liver, and skin were more frequently invaded in X-linked (XL) CGD patients than in autosomal recessive (AR) CGD patients (P < 0.05). Approximately 64% (92/144) of the pediatric patients suffered from abnormal response to BCG vaccination. The most frequent pathogens were Aspergillus and Mycobacterium tuberculosis. Gene analysis indicated that 132 cases (89%, 132/147) harbored CYBB pathogenic variants, 7 (5%, 7/147) carried CYBA pathogenic variants, 4 (3%, 4/147) had NCF1 pathogenic variants, and 4 (3%, 4/147) had NCF2 pathogenic variants. The overall mortality rate in this study was 43%, particularly the patients were males, with CYBB mutant and did not receive HSCT treatment.CONCLUSIONS:
Chronic granulomatous disease is a rare disease affecting Chinese children; however, it is often diagnosed at a later age, and thus, the mortality rate is relatively high. The prevalence and the severity of disease in XL-CGD are higher than AR-CGD.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
NADPH Oxidasas
/
Enfermedad Granulomatosa Crónica
Tipo de estudio:
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Child
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Child, preschool
/
Female
/
Humans
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Infant
/
Male
/
Newborn
País/Región como asunto:
Asia
Idioma:
En
Revista:
Pediatr Allergy Immunol
Asunto de la revista:
ALERGIA E IMUNOLOGIA
/
PEDIATRIA
Año:
2019
Tipo del documento:
Article
País de afiliación:
China