Clinical outcome in children with chronic granulomatous disease managed conservatively or with hematopoietic stem...

Area of Science:

• Immunology
• Pediatric Hematology
• Transplantation Medicine

Background:

• Chronic granulomatous disease (CGD) is a primary immunodeficiency causing severe infections and inflammation.
• Management options include prophylactic antimicrobials or curative hematopoietic stem cell transplantation (HSCT).
• UK and Ireland have cohorts of children managed both conservatively and curatively.

Purpose of the Study:

• To compare clinical outcomes, including mortality and morbidity, in children with CGD managed conservatively versus curatively with HSCT.

Main Methods:

• Children with CGD were identified from specialist centers and patient groups.
• Clinical data on infections, inflammation, growth, admissions, and HSCT were collected retrospectively.
• Comparisons were made between patients not undergoing HSCT and those post-HSCT.

Main Results:

• Fifty-nine of 73 identified living children with CGD were recruited; 30 had undergone HSCT.
• Non-transplanted children experienced 0.71 infection/admission/surgery episodes per CGD life year.
• Post-HSCT children had significantly fewer episodes (0.15 per transplant year) and improved height and BMI z-scores.
• Survival was 90% at 15 years in both non-HSCT and post-HSCT groups.

Conclusions:

• Children with CGD not undergoing HSCT experience more severe infections, surgeries, and admissions.
• HSCT improves growth outcomes (height for age) in children with CGD.
• Survival rates are favorable at the end of the pediatric age range and post-HSCT.