| Objective: To explore the early clinical feature of children with chronic granulomatous disease(CGD)and provide early warning signals for clinicians to recognize CGD.Method: The clinical data of 21 infants with CGD who were hospitalized for acute infection from January 2007 to December 2019 were analyzed retrospectively.21 children were 1:1 matched as the control group according to the admitted time,gender,age and main infection site.The differences of age,gender,hospital stay,antibiotics therapy,past medical history,birth history,history of growth and development and laboratory makers between the two groups were analyzed.The correlation between chest Computerized Tomography(CT)imaging findings and BCG disease were statistically analyzed in CGD group;the clinical significance of laboratory markers in screening CGD was evaluated by ROC and AUC,and the best cutoff value was calculated by youden index to evaluate the specificity and sensitivity of laboratory markers for early diagnosis of CGD.Results:(1)All the children in CGD group were male and mutations gene all were CYBB,13 cases(61.90%)had upgraded antibiotics,10 cases(47.61%)had recurrent respiratory tract infection and 10 cases(23.81%)had gross motor development retardation,5 cases(23.81%)were underweight,and 11 cases(52.38%)had family history of premature death.Pneumonia was found in 20 cases(95.24%),skin and soft tissue infection in 7 cases(33.3%),diarrhea and perianal abscess in 5 cases(23.8%),and fungal infection,intracranial infection,liver abscess,urinary tract infection,otitis media,septicemia and osteomyelitis in 1 case(4.76%)respectively.16 children had been vaccinated Bacillus Calmette-Guérin(BCG)vaccination,10 cases(62.5%.)had BCG disease.11 cases had anemia(52.38%),in which 8 cases were moderate anemia and 3 cases were mild anemia.Compared with the control group,CGD group had higher incidence of recurrent respiratory tract infection,gross motor development retardation,underweight,anemia,BCG disease and perianal abscess(P < 0.05).(2)Among the 16 children with CGD,7 cases(43.75%)with enlarged axillary lymph nodes,5 cases(31.25%)with 1-2 nodular shadows,4 cases(25%)with dense mass shadows,4 cases(25%)with pleural thickening,3 cases(18.75%)with scattered nodules,2 cases(12.5%)with enlarged mediastinal lymph nodes and 2 cases(12.5%)with pleural effusion.(3)Compared with the control group,white blood cell count,platelet count,percentage of neutrophils,absolute neutrophil count,absolute lymphocyte count,C-reactive protein(CRP)in CGD group were statistically significantly increased,while hemoglobin,red blood cell count and percentage of lymphocytes were statistically significantly decreased.Among them,AUC under ROC curve indicated that white blood cell count,hemoglobin,percentage of neutrophils,absolute neutrophil count and CRP are better than others as laboratory markers.The best cutoff value of white blood cell count is 13.25(* 10 ^ 9 / L),the specificity is 81% and the sensitivity is 71.4%;the best cutoff value of percentage of neutrophils is 49.5%,the specificity is 76.2%,and the sensitivity is 66.7%;the best cutoff value of absolute neutrophil count was 4.18(* 10 ^ 9 / L),the specificity was 57.1%,and the sensitivity was 85.7%;the best cutoff value of hemoglobin was 105(g / L),the specificity was 76.2%,and the sensitivity was 76.2%;the best cutoff value of CRP was 8(mg / L),the specificity was 85.7%,and the sensitivity was 66.7%.Conclusion: CGD should be considered when recurrent respiratory tract infection,gross motor development retardation,underweight,anemia,BCG disease,perianal abscess and upgraded antibiotic treatment during hospitalization occurred in infants with acute infection.Enlarged axillary lymph nodes of chest CT in CGD children might indicate BCG disease.The increase of white blood cell count,neutrophil percentage,the absolute neutrophil value,and CRP,and the decline of hemoglobin conveyed early warning signals of CGD to some degree. |
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