Department of Pediatrics, Memorial Sloan-Kettering Cancer Center-Bone Marrow Transplant Service, New York, New York, USA.
Pediatr Blood Cancer. 2012 Sep;59(3):525-9. doi: 10.1002/pbc.23410. Epub 2011 Dec 6.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease in children. The most significant clinical features of PNH include: bone marrow failure, intravascular hemolysis, and thrombosis. To further characterize the clinical presentation and outcome to treatment we performed a retrospective analysis of pediatric patients with PNH.
We reviewed the medical records of 12 consecutive pediatric patients with PNH diagnosed at our institution from 1992 to 2010.
Presenting clinical symptoms included: bone marrow failure (N = 10); gross hemoglobinuria with isolated red cell anemia (N = 1); and jaundice, hepatitis, and isolated thrombocytopenia (N = 1). Immunosuppressive therapy was the initial treatment for 8 patients. Five patients had myelodysplastic features without developing excessive blasts or leukemic transformation. Thrombosis occurred in 6 patients. Five patients underwent hematopoietic stem cell transplant (HSCT) of whom 3 patients are alive and disease-free. Three patients received anti-complement therapy with eculizumab. Two patients died following complications related to thrombosis and 2 patients are transfusion independent with stable disease.
This report highlights a high rate of bone marrow failure along with a low rate of hemoglobinuria at presentation, a high rate of thrombosis, and for some patients the spontaneous resolution of myelodysplastic features. Delay in diagnosis is common and we recommend appropriate PNH testing in all patients with AA, MDS, unexplained Coombs-negative hemolysis, or thrombosis. While HSCT remains the only curative option the high prevalence of hemolysis and thrombosis should warrant the consideration of early treatment with anti-complement therapy.
阵发性睡眠性血红蛋白尿症（PNH）是一种罕见的儿童疾病。PNH 的最显著临床特征包括：骨髓衰竭、血管内溶血和血栓形成。为了进一步描述临床表现和治疗结果，我们对我院 1992 年至 2010 年间诊断的 12 例儿童 PNH 患者进行了回顾性分析。
我们回顾性分析了我院 1992 年至 2010 年间诊断的 12 例连续的儿童 PNH 患者的病历。
患者的临床表现包括：骨髓衰竭（n=10）；肉眼血尿伴孤立性红细胞性贫血（n=1）；黄疸、肝炎和孤立性血小板减少症（n=1）。8 例患者初始接受免疫抑制治疗。5 例患者有骨髓增生异常特征，但未发展为过度增生或白血病转化。6 例患者发生血栓形成。5 例患者接受造血干细胞移植（HSCT），其中 3 例患者存活且无疾病。3 例患者接受 eculizumab 抗补体治疗。2 例患者因血栓相关并发症死亡，2 例患者输血依赖但病情稳定。
本报告强调了骨髓衰竭发生率高，而初诊时血尿发生率低，血栓形成率高，部分患者骨髓增生异常特征自发缓解。诊断延迟很常见，我们建议所有 AA、MDS、原因不明的 Coombs 阴性溶血性贫血或血栓形成患者进行适当的 PNH 检测。虽然 HSCT 仍然是唯一的治愈方法，但高发生率的溶血和血栓形成应考虑早期使用抗补体治疗。
