Follow up of patients with chronic granulomatous disease diagnosed since 1990

Abstract

SUMMARY 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.