Griesser Christina, Myskiw Michael, Streif Werner
Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
Institute for Diagnostic and Interventional Radiology, RoMed Hospital Rosenheim, Rosenheim, Germany.
TH Open. 2020 Feb 20;4(1):e36-e39. doi: 10.1055/s-0040-1702155. eCollection 2020 Jan.
Paroxysmal nocturnal hemoglobinuria (PNH) is a chronic disease caused by complement-mediated hemolysis. Clinical symptoms include intravascular hemolysis, nocturnal hemoglobinuria, thromboses, cytopenia, fatigue, abdominal pain, and a strong tendency toward bone marrow failure. It is a rare disease, especially in children, with high mortality rates without appropriate treatment. We here present the case of a 17-year-old girl with unprovoked muscle vein thrombosis. Flow cytometric analysis showed deficiency of glycosyl-phosphatidylinositol-anchored membrane proteins on all three hematopoietic cell lines and confirmed the diagnosis of PNH. Treatment with the monoclonal antibody eculizumab achieved long-term remission. As flow cytometry is normally not part of the routine diagnostics for pediatric thrombosis, awareness is crucial and PNH is important to consider in all children with thrombosis at atypical sites and abnormalities in blood counts with regard to hemolysis and cytopenia.
阵发性睡眠性血红蛋白尿（PNH）是一种由补体介导的溶血引起的慢性疾病。临床症状包括血管内溶血、夜间血红蛋白尿、血栓形成、血细胞减少、疲劳、腹痛以及强烈的骨髓衰竭倾向。这是一种罕见疾病，尤其是在儿童中，若未进行适当治疗，死亡率很高。我们在此报告一例17岁无诱因肌肉静脉血栓形成的女孩病例。流式细胞术分析显示所有三种造血细胞系上糖基磷脂酰肌醇锚定膜蛋白缺乏，从而确诊为PNH。使用单克隆抗体依库珠单抗治疗实现了长期缓解。由于流式细胞术通常不属于儿科血栓形成常规诊断的一部分，提高认识至关重要，对于所有非典型部位血栓形成且血细胞计数有溶血和血细胞减少异常的儿童，都应考虑到PNH。
