Paroxysmal nocturnal hemoglobinuria in children

Area of Science:

• Hematology
• Genetics
• Pediatrics

Background:

• Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired hematologic disorder in children.
• It is characterized by intravascular hemolysis, thrombosis, infections, and bone marrow failure.
• PNH arises from a somatic mutation in the PIGA gene, leading to a deficiency of GPI-anchored proteins.

Purpose of the Study:

• To review reported cases of PNH in children.
• To discuss recent guidelines for classification, diagnostics, and treatment of pediatric PNH.
• To highlight the importance of considering PNH in children with unexplained bone marrow failure or thrombosis.

Main Methods:

• Review of reported pediatric PNH cases.
• Application of recently published international guidelines for PNH classification, diagnostics, and treatment.
• Immunophenotypic GPI-linked anchor protein analysis as a diagnostic tool.

Main Results:

• PNH is very rare in children, but its presence should be considered in pediatric cases of acquired bone marrow failure syndromes (e.g., aplastic anemia, myelodysplastic syndrome) or unexpected thrombosis.
• Immunophenotypic analysis is the current standard for diagnosing PNH, replacing older tests.
• Treatment strategies are tailored to the clinical presentation, with stem cell transplantation being a key option for severe bone marrow failure.

Conclusions:

• PNH diagnosis in children requires a high index of suspicion, especially in those with bone marrow failure or thrombosis.
• Current diagnostic methods, particularly immunophenotyping, are reliable.
• Stem cell transplantation is a viable therapeutic option for severe pediatric PNH, even without a matched sibling donor.