Department of Pediatrics, Division of Pediatric Endocrinology, School of Medicine, Yuzuncu Yil University, Van, Turkey.
Hum Exp Toxicol. 2011 Jul;30(7):768-71. doi: 10.1177/0960327110379023. Epub 2010 Jul 29.
Mucopolysaccharidosis type VI (MPS VI), or Maroteaux-Lamy syndrome, is a lysosomal storage disorder that results from a deficiency of the enzyme N-acetylgalactosamine-4-sulfatase or arylsulfatase B (ASB). It is a relatively rare disorder, with an estimated incidence of 1 in 248,000 to 1 in 300,000. The diagnosis is made on the basis of findings of elevated urine glycosaminoglycans and a deficiency of ASB activity in leukocytes or cultured fibroblasts. In treatment of MPS VI, enzyme replacement therapy (galsulfase; human recombinant ASB enzyme) became available. Infusions of galsulfase were generally well tolerated. But in some patients, infusion-associated reactions including rash, urticaria, headache, hypotension, nausea, and vomiting were documented and were managed successfully by interrupting or slowing the rate of infusion and/or by the administration of antihistamines, antipyretics, corticosteroids, or oxygen. Here, we report a case with MPS VI who developed thrombocytopenia after third dose of therapy. To the best of our knowledge, this is the first report about thrombocytopenia associated with galsulfase therapy in the literature. Additionally, with this report, we want to share our approach for this case.
黏多糖贮积症 VI 型（MPS VI），也称 Maroteaux-Lamy 综合征，是一种溶酶体贮积症，由 N-乙酰半乳糖胺-4-硫酸酯酶或芳基硫酸酯酶 B（ASB）缺乏引起。它是一种相对罕见的疾病，估计发病率为每 248000 至每 300000 人中 1 例。该诊断基于尿液糖胺聚糖升高和白细胞或培养的成纤维细胞中 ASB 活性缺乏的发现。在 MPS VI 的治疗中，酶替代疗法（galsulfase；人重组 ASB 酶）已可应用。galsulfase 的输注通常耐受性良好。但在一些患者中，记录到了与输注相关的反应，包括皮疹、荨麻疹、头痛、低血压、恶心和呕吐，并通过中断或减慢输注速度和/或使用抗组胺药、退烧药、皮质类固醇或氧气成功进行了管理。在这里，我们报告了 1 例接受第 3 剂治疗后发生血小板减少症的 MPS VI 患者。据我们所知，这是文献中首例与 galsulfase 治疗相关的血小板减少症报告。此外，通过本报告，我们希望分享对此病例的处理方法。
