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Follow up of patients with chronic granulomatous disease diagnosed since 1990
C M Cale1, A M Jones, D Goldblatt
1Department of Immunology, Great Ormond Street Hospital NHS Trust, Institute of Child Health, London, UK.
Insights
Effective antibacterial and antifungal prophylaxis significantly improved outcomes for children with chronic granulomatous disease (CGD). This study shows a decreased infection incidence and thriving patients on these regimens, informing future treatment strategies.
Area of Science:
- Immunology
- Pediatrics
- Genetics
Background:
- Chronic granulomatous disease (CGD) historically has poor outcomes.
- Effective antibacterial prophylaxis has improved CGD patient prognoses.
- A single-center cohort study was conducted to assess outcomes in children diagnosed since 1990.
Purpose of the Study:
- To document the clinical course of children with CGD diagnosed since 1990.
- To evaluate the effectiveness and tolerability of prophylactic antibacterial and antifungal agents.
- To compare current outcomes with historical CGD cohorts.
Main Methods:
- Retrospective review of 21 pediatric CGD patients diagnosed from 1990 onwards.
- Analysis of diagnosis age, time to diagnosis, infections, complications, and mortality.
- Assessment of prophylactic antibacterial (co-trimoxazole) and antifungal (itraconazole) use and tolerance.
Main Results:
- Median age at assessment was 4 years and 5 months; one-third diagnosed in infancy due to family history.
- Median delay between symptom onset and diagnosis was 13 months for the remaining patients.
- No invasive or fungal infections or deaths occurred post-diagnosis; non-infectious complications responded to steroids. Patients were thriving with normal growth parameters.
- All patients received antibacterial prophylaxis (90% co-trimoxazole) and antifungal prophylaxis (90% itraconazole), with good tolerance.
Conclusions:
- Pediatric CGD patients diagnosed recently tolerated antibacterial and antifungal prophylaxis well.
- Prophylaxis significantly decreased infection incidence compared to historical cohorts.
- Continued follow-up and consideration of aggressive treatments like bone marrow transplantation are warranted.
Abstract:
Outcomes for children with chronic granulomatous disease (CGD) have historically been poor, but significant improvements have occurred with the use of effective antibacterial prophylaxis. The present study aimed to document the clinical course of a cohort of children diagnosed with CGD since 1990 in a single centre. Twenty-one patients were identified, with a median age at last assessment of 4 years and 5 months. A third of these children were diagnosed in infancy because of a positive family history. Of the remaining, there was a median delay between the onset of symptoms and diagnosis of 13 months. No invasive or fungal infections were documented after diagnosis, nor were there any deaths in this cohort. A variety of non-infectious complications were noted, which responded well to steroids. As a group, these children were thriving and weight and height distributions fell within the population norm. All patients were receiving antibacterial prophylaxis, 90% with co-trimoxazole, and all but one patient were receiving a prophylactic anti-fungal agent (itraconazole). Both drugs were well tolerated. In conclusion, this cohort of patients, diagnosed in the last decade, tolerated antibacterial and anti-fungal prophylaxis well and on this regimen have a significantly decreased incidence of infection when compared with historical cohorts. Careful follow up of patients who have had aggressive antibacterial and anti-fungal prophylaxis should continue. The data reported on this cohort of patients should inform the debate about the use of more aggressive treatments, such as bone marrow transplantation, in this disease.