Iron storage in liver, bone marrow and splenic Gaucheroma reflects residual disease in type 1 Gaucher disease patients on treatment
Iron storage in liver, bone marrow and splenic Gaucheroma reflects residual disease in type 1 Gaucher disease patients on treatment
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DOI：
10.1111/bjh.14915
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发表时间：
2017-11-01
影响因子：
6.5
通讯作者：
Hollak, Carla E. M.
中科院分区：
文献类型：
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作者：
Regenboog, Martine;Bohte, Anneloes E.;Hollak, Carla E. M.
高谢病(GD)是一种溶酶体储存障碍，其特征是糖鞘糖脂在巨噬细胞中储存。尽管治疗有效，但残留病仍在不同程度上存在，并可能与晚期并发症有关，如持续性骨骼或肝脏疾病和癌症风险增加。高雪氏巨噬细胞能够储存铁，因此可以通过铁成像检测残留疾病的位置。使用由标准序列组成的全身磁共振成像方案对40名1型GD(GD1)患者和40名匹配的健康对照进行了检查，该方案允许分析每个器官的铁含量，以R2*(赫兹)表示。GD1患者肝脏R2*中位数显著高于健康对照组[41赫兹(29-165)对38赫兹(28-53)，P
Gaucher disease (GD) is a lysosomal storage disorder characterized by the storage of glycosphingolipids in macrophages. Despite effective therapy, residual disease is present in varying degrees and may be associated with late complications, such as persistent bone or liver disease and increased cancer risk. Gaucher macrophages are capable of storing iron and locations of residual disease may thus be detectable with iron imaging. Forty type 1 GD (GD1) patients and 40 matched healthy controls were examined using a whole-body magnetic resonance imaging protocol consisting of standard sequences, allowing analysis of iron content per organ, expressed as R2* (Hz). Median R2* values were significantly elevated in GD1 patients as compared to healthy controls in liver [41Hz (range 29-165) vs. 38Hz (range 28-53), P