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Published on: December 8, 2023
Hematopoietic stem cell transplantation in children with chronic granulomatous disease: the Spanish experience
Laura Alonso García1, David Bueno Sánchez2, Jose Maria Fernández Navarro3
1Servicio de Hematología y Oncología Pediátricas, Hospital Universitari Vall d´Hebron, Barcelona, Spain.
Insights
Hematopoietic stem cell transplantation (HCT) offers a cure for chronic granulomatous disease (CGD). However, outcomes vary, with unrelated donor transplants showing higher complication rates, necessitating careful patient selection and management strategies.
Area of Science:
- Pediatric Hematology
- Immunology
- Transplantation Science
Background:
- Chronic granulomatous disease (CGD) is a primary immunodeficiency treatable with hematopoietic stem cell transplantation (HCT).
- HCT carries risks of morbidity and mortality, making patient selection and optimal transplant strategies crucial.
- The efficacy and safety of HCT for pediatric CGD remain subjects of ongoing investigation.
Purpose of the Study:
- To retrospectively evaluate the outcomes of pediatric patients with CGD who underwent HCT.
- To analyze the impact of donor type and conditioning regimens on transplant success and complications.
- To identify factors influencing graft failure, graft-versus-host disease, and overall survival.
Main Methods:
- Retrospective analysis of 30 pediatric patients with CGD who received HCT in Spanish transplant units.
- Evaluation of transplant types including matched sibling donor (MSD), unrelated donor (UD), and haploidentical transplants.
- Assessment of reduced-intensity conditioning regimens, graft failure (GF), chronic graft-versus-host disease (GVHD), infections, and overall survival (OS).
Main Results:
- The 2-year overall survival (OS) was 77.3%.
- Graft failure (GF) occurred in 28.26% of patients, with higher rates in unrelated donor (UD) transplants (37.08%) compared to matched sibling donor (MSD) transplants (11.1%).
- Chronic graft-versus-host disease (GVHD) incidence was 20.5%, also higher in UD recipients (26.7%) than MSD recipients (11.1%).
Conclusions:
- HCT is a potentially curative treatment for pediatric CGD but involves significant risks.
- Unrelated donor transplants are associated with increased rates of graft failure and chronic GVHD.
- Careful consideration of donor type, conditioning, and GVHD prophylaxis is essential for optimizing HCT outcomes in pediatric CGD patients.
Introduction:
Hematopoietic stem cell transplantation (HCT) can cure chronic granulomatous disease (CGD). However, transplant-associated morbidity or mortality may occur, and it is still controversial which patients benefit from this procedure. The aim of this retrospective study was to evaluate the outcome of pediatric patients who received HCT in one of the Spanish pediatric transplant units.
Results:
Thirty children with a median age of 6.9 years (range 0.6-12.7) were evaluated: 8 patients received a transplant from a sibling donor (MSD), 21 received a transplant from an unrelated donor (UD), and 1 received a haploidentical transplant. The majority of the patients received reduced-intensity conditioning regimens based on either busulfan plus fludarabine or treosulfan. Relevant post-HCT complications were as follows: i) graft failure (GF), with a global incidence of 28.26% (CI: 15.15-48.88), 11.1% in patients with MSD (1.64-56.70) and 37.08% in unrelated donors (19.33-63.17); and ii) chronic graft-versus-host disease (GVHD), with an incidence of 20.5% (8.9-43.2), 11.1% in patients with MSD (1.64-56.70) and 26.7% in unrelated donors (10.42-58.44). Post-HCT infections were usually manageable, but two episodes of pulmonary aspergillosis were diagnosed in the context of graft rejection. The 2-year OS was 77.3% (55.92-89.23). There were no statistically significant differences among donor types.
Discussion:
HCT in patients with CGD is a complex procedure with significant morbidity and mortality, especially in patients who receive grafts from unrelated donors. These factors need to be considered in the decision-making process and when discussing conditioning and GVHD prophylaxis.
