骨髓造影在戈谢病诊断中的价值:两例报告

Houari Mouna, Krichal Lina, Nasfi Abdelmalek, Latifa Jalili, Ammor Abdeslam, Chaimae Errabhi, Majda Elhassouni, Tasnim Kouame, Kaoutar Bahyat, Aissaoui Fqayeh Abderrahmane, Houari Mouna
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引用次数: 0

摘要

在最常见的体质性超负荷酶病中,戈谢病是一种罕见的体质性超负荷疾病,通常是由溶酶体酶缺乏引起的,在儿童中的发病率高于成人。戈谢病的病因是葡萄糖脑苷脂酶缺乏,导致巨噬细胞中的葡萄糖苷积累。这些大量的巨噬细胞存在于淋巴组织(脾脏、肝脏、骨髓、淋巴结)中,其中一些具有特征性的形态学外观(戈谢病细胞),因此在进行骨髓造影时可提示诊断。报告了两例成年患者,他们的骨髓造影显示出超负荷细胞,使我们能够做出戈谢病的诊断。
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Value of the Myelogram in the Diagnosis of Gaucher Disease: Two Cases Report
Among the most common constitutional overload enzymopathies, Gaucher disease is a rare constitutional overload disease and often caused by lysosomal enzyme deficiencies in pediatric population more than adults. The cause of Gaucher disease is a deficiency of glucocerebrosidase resulting in an accumulation of glucocerebroside) in macrophages. These abundant macrophages are present in the lymphoid tissues (spleen, liver, marrow, lymph node), some of which have a characteristic morphological appearance (Gaucher cell) allowing the diagnosis to be suggested during myelogram. Reporting two cases of adult patients in whom the demonstration of overload cells in the myelogram allowed us to direct towards the diagnosis of Gaucher disease.
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