Farber’s disease without central nervous system involvement: bone-marrow transplantation provides a promising new approach
Farber’s disease without central nervous system involvement: bone-marrow transplantation provides a promising new approach
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不累及中枢神经系统的法伯氏病：骨髓移植提供了一种有前途的新方法
DOI：
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发表时间：
2006
影响因子：
27.4
通讯作者：
J. Vormoor
中科院分区：
文献类型：
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作者：
K. Ehlert;J. Roth;M. Frosch;N. Fehse;N. Zander;J. Vormoor
法伯病是一种由酸性神经酰胺酶缺乏引起的溶酶体储存障碍。1不累及中枢神经系统（CNS）的患者的主要症状（2/3型），是由白细胞失调引起的，2细胞内积累的神经酰胺引起的细胞凋亡和信号转导受损，导致这种疾病的炎症成分，关节肿胀，肉芽肿形成，6目前的治疗重点是疼痛管理、物理治疗、挛缩的手术矫正和抗炎药物治疗。在类风湿性疾病，如幼年型类风湿性关节炎，免疫抑制或自体造血干细胞移植（HSCT）可以提供实质性的好处，因为治疗是基于抑制丰富的炎症反应...
Farber’s disease is a lysosomal storage disorder caused by acid ceramidase deficiency.1 The main symptoms in patients without central nervous system (CNS) involvement (type 2/3), are caused by leucocyte dysregulation,2 with impaired apoptosis and signal transduction caused by intracellularly accumulated ceramide, leading to the inflammatory component of this disorder, with swelling of joints, granuloma formation, contractures and inflammatory airway involvement.6 Current treatment focuses on pain management, physical treatment, surgical correction of contractures and treatment with anti-inflammatory drugs. In rheumatoid disorders such as juvenile rheumatoid arthritis, immunosuppression or autologous haematopoietic stem cell transplantation (HSCT) can afford a substantial benefit, as treatment is based on suppression of abundant inflammatory responses by …