Clinical features and CYBB gene mutation analysis of chronic granulomatous disease in 6 neonate infants / 中华实用儿科临床杂志

ABSTRACT

Objective To determine the clinical features and gene expression of neonatal chronic granulomatous disease(CGD) in newborns,in order to provide the evidence for early diagnosis,treatment and infection prophylaxis and so as to improve prognosis.Methods The clinical data of 6 neonates with CGD who hospitalized in Beijing Children's Hospital,Capital University of Medical Sciences,from Jan.to Dec.2013 were retrospectively analyzed,to summarize their clinical features and gene expression.Results All patients were male,mean age of onset in 6 patients was 19 days old.Six patients were onset with cough and fever,3 cases with skin abscesses.All patients had special lung images and their respiratory burst test were all positive.Six patients were all X-linked recessive heredity with mutation in CYBB gene,4 cases carried missense mutation,1 case carried frameshit mutation,1 case had shear point disappear.All patients were improved during hospitalization with anti-infective therapy including antifungal and antibiotic drugs.After their discharge,the patients were followed up for 1 year,among them 5 patients taking antibiotics according to doctor's advise hadn't got any severe infections or other complications,1 patient did not receive antibiotics according to doctor's advise,caught respiratory infection was occured once per 1-2 months and died of multiple organ failure in 5 months due to severe infection.Conclusions For newborn with respiratory symptoms such as cough and fever,with apparently nodular and massive radiologic infiltrates,CGD cases should be highly suspected.Long term prognosis is good in children with prophylactic medication and they may have a longer infection interval.