Clinical case of paroxysmal nocturnal hemoglobinuria in conjunction with bone marrow failure in a child: diagnostics lessons and modern treatment options

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) can be found at children and adolescents, but often diseases not diagnosed in time and patients cannot receive adequate treatment for a long period. Thus, in presented clinical case the diagnosis of PNH was firstly established after 4 years from the moment of first admission to the hospital and after 6 years from the debut of disease. Since the PNH-clone can be found mainly at patients of child age with aplastic anemia (AA) or with myelodisplastic syndrome, screening is required for such patients to identify the PNH. For children with AA, even in case of absence of hemolysis clinical presentation, screening is recommended at least 1 time per year during the subsequent observation.
Before appearance of eculizumab the main methods of PNH treatment in complex with bone marrow failure were blood transfusions and symptomatic therapy, as well as allogenic bone marrow transplantation (BMT). Though the above-mentioned method allows achieving healing of PNH, BMT can be associated with high risk of complications and death. In presented case, mother of girl refuse of BMT. Treatment if AA lead to partial recovery of hematopoiesis, but the severity of patients’ health determined by severe course of chronic intravascular hemolysis and hemolytic crises due to PNH. Eculizumab treatment allows to effectively control of hemolysis, significantly decrease transfusion dependent and improve the quality of life of child.