Background Paroxysmal nocturnal hemoglobinuria (PNH) in children is uncommon and often diagnosed late, particularly in resource-limited settings. Methods We report our experience with eight Egyptian children diagnosed between 2018 and 2025, highlighting their clinical course and our initial use of ravulizumab. Results The mean age at diagnosis was 12.6 ± 2.8 years, and the median delay before diagnosis was over 1 year. Six patients presented with classic PNH one of whom later evolved to hypocellularity while two demonstrated aplastic anemia -PNH overlap. All presented with severe anemia (mean hemoglobin 6.1 ± 0.9 g/dL), and most had additional cytopenias and biochemical evidence of hemolysis. The disease burden was substantial: thrombotic events, hypertension, and renal involvement were observed during follow-up. Mortality was high; one child died after stem cell transplantation due to acute graft-versus-host disease, and four others, including those with concomitant aplastic anemia died before transplantation could be performed. In contrast, the two patients who received ravulizumab showed rapid clinical and hematologic improvement, became transfusion independent, and experienced only transient adverse effects. Conclusion Our findings underscore the severity of pediatric PNH and highlight the critical importance of timely diagnosis and access to complement inhibition therapy. Ravulizumab demonstrated clear clinical efficacy. Impact <UnorderedList Mark="Bullet"> <ItemContent> Pediatric paroxysmal nocturnal hemoglobinuria (PNH) in Egypt is associated with delayed diagnosis, severe cytopenias, and high early mortality. </ItemContent> <ItemContent> This study provides rare real-world data from a resource-limited setting with limited access to complement inhibition therapy. </ItemContent> <ItemContent> Early experience with ravulizumab demonstrated rapid hematologic improvement and transfusion independence. </ItemContent> <ItemContent> Improving early recognition and access to targeted therapy may reduce morbidity and mortality in affected children. </ItemContent> </UnorderedList>

Clinical characteristics and outcomes of pediatric paroxysmal nocturnal hemoglobinuria in Egypt: a real-world cohort study including ravulizumab

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2026年6月22日

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Mervat A. M. Youssef,
Mostafa M. Embaby,
Endi Mohmad Rashad,
Ahmad Fathi Mahmoud,
Nourhan Eladghm,
Enass Mohmed Said

摘要

Background

Paroxysmal nocturnal hemoglobinuria (PNH) in children is uncommon and often diagnosed late, particularly in resource-limited settings.

Methods

We report our experience with eight Egyptian children diagnosed between 2018 and 2025, highlighting their clinical course and our initial use of ravulizumab.

Results

The mean age at diagnosis was 12.6 ± 2.8 years, and the median delay before diagnosis was over 1 year. Six patients presented with classic PNH one of whom later evolved to hypocellularity while two demonstrated aplastic anemia -PNH overlap. All presented with severe anemia (mean hemoglobin 6.1 ± 0.9 g/dL), and most had additional cytopenias and biochemical evidence of hemolysis. The disease burden was substantial: thrombotic events, hypertension, and renal involvement were observed during follow-up. Mortality was high; one child died after stem cell transplantation due to acute graft-versus-host disease, and four others, including those with concomitant aplastic anemia died before transplantation could be performed. In contrast, the two patients who received ravulizumab showed rapid clinical and hematologic improvement, became transfusion independent, and experienced only transient adverse effects.

Conclusion

Our findings underscore the severity of pediatric PNH and highlight the critical importance of timely diagnosis and access to complement inhibition therapy. Ravulizumab demonstrated clear clinical efficacy.

Impact

Pediatric paroxysmal nocturnal hemoglobinuria (PNH) in Egypt is associated with delayed diagnosis, severe cytopenias, and high early mortality.

This study provides rare real-world data from a resource-limited setting with limited access to complement inhibition therapy.

Early experience with ravulizumab demonstrated rapid hematologic improvement and transfusion independence.

Improving early recognition and access to targeted therapy may reduce morbidity and mortality in affected children.