Outcomes of paroxysmal nocturnal hemoglobinuria in the pediatric age group in a resource‐constrained setting

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired clonal stem cell disorder. Eculizumab and bone marrow transplantation are disease‐modifying treatments for PNH but may not be readily available in resource‐constrained settings. Of 52 pediatric patients with PNH, 20 had classical PNH and 32 had PNH/aplastic anemia (PNH/AA). Median time to diagnosis was 30 months in classical PNH patients. Renal failure was present in four patients (20%). Six (30%) achieved complete response, 10 (50%) achieved partial response with androgens in classical PNH. Two underwent allogenic stem cell transplantation. In the PNH/AA group, 16 (50%) were in CR and seven (21%) were in PR with anti‐thymocyte globulin ± cyclosporine.

Pediatric Paroxysmal Nocturnal Hemoglobinuria Presenting as Acute Kidney Injury

“…Because of the rarity of PNH in children, most of the data regarding the initial presenting symptoms of disease come from small case series and isolated reports. One retrospective review of 52 pediatric PNH cases found that symptoms related to cytopenia and marrow failures, such as fatigue and weakness, were the most common initial symptoms 9. Our patient did present with many of these features, but the uniqueness of this case stems from her concomitant and significant renal dysfunction.…”

“…One retrospective review of 52 pediatric PNH cases found that symptoms related to cytopenia and marrow failures, such as fatigue and weakness, were the most common initial symptoms. 9 Our patient did present with many of these features, but the uniqueness of this case stems from her concomitant and significant renal dysfunction. Many patients with PNH develop some degree of renal involvement throughout the course of their disease, but AKI is an uncommon presenting feature, particularly in children.…”

“…Renal involvement in PNH is well documented, but it is exceedingly rare for AKI to be the first presenting feature of the disease in children. There are <10 reported cases of this phenomenon in the literature 5–9. Based on previously reported cases, it seems that our patient is the youngest to have this unique clinical presentation of PNH.…”

The role of androgen therapy in acquired aplastic anemia and other bone marrow failure syndromes

“…Expectedly, response starts within 4-8 weeks and once a hemoglobin concentration of 12 g/dl is reached the dose is reduced gradually to the minimum effective dose to maintain hemoglobin between 10-12 g/dl (25). In paroxysmal nocturnal hemoglobinuria (PNH), a rare acquired clonal stem cell disorder, androgens were efficacious to treat the anemia part of the disease especially in patients with hypoplasia (27)(28)(29). However, androgens have no effect on hemolysis and their impact on thrombogenesis need to be watched closely in these patients.…”