Secondary Hemophagocytosis in 3 Patients With Organic Acidemia Involving Propionate Metabolism
Secondary Hemophagocytosis in 3 Patients With Organic Acidemia Involving Propionate Metabolism
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DOI：
10.3109/08880018.2011.601402
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发表时间：
2012-02-01
影响因子：
1.7
通讯作者：
Tokatli, A.
中科院分区：
文献类型：
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作者：
Gokce, M.;Unal, O.;Tokatli, A.
噬血细胞性淋巴组织细胞增生症（HLH）可能继发于感染、恶性肿瘤、免疫缺陷综合征、风湿病和代谢紊乱。HLH与先天性代谢缺陷（包括赖氨酸尿蛋白不耐受、多发性硫酸酯酶缺乏、半乳糖血症、戈谢病、皮尔逊综合征和半乳糖唾液酸沉积症）之间的相关性先前已在文献中报道。在这份报告中，作者介绍了3例丙酸代谢紊乱的儿童，1例甲基丙二酸血症，2例丙酸血症，他们在代谢发作期间发生了继发性HLH。所有患者均符合组织细胞学会的5项HLH标准。通过分子分析排除了家族性HLH。其中2例进行了血浆置换。不幸的是，1人在强化治疗后死于多器官功能衰竭。这是此类协会的第一份报告。
Hemophagocytic lymphohistiocytosis (HLH) may develop secondary to infections, malignancies, immune deficiency syndromes, and rheumatologic and metabolic disorders. Associations between HLH and inborn errors of metabolism, including lysinuric protein intolerance, multiple sulfatase deficiency, galactosemia, Gaucher disease, Pearson syndrome, and galactosialidosis, have previously been reported in the literature. In this report the authors present 3 children with disorders of propionate metabolism-1 with methylmalonic acidemia and 2 with propionic acidemia-who developed secondary HLH during their metabolic attacks. All patients fulfilled the 5 HLH criteria of the Histiocyte Society. Familial HLH was ruled out by molecular analysis. Plasma exchange was performed for 2 of them. Unfortunately 1 died of multiorgan failure despite intensive therapy. This is the first report of such an association.