论文部分内容阅读
第5号染色体长臂缺失,导致了伴血小板数正常或增高的一种特殊形式的骨髓增生异常综合征(MDS),即5q~-综合征。在DNA水平发现有C-fms癌基因(CSF-1受体)的缺失,这种缺失与此综合征的发病机理有关,尚可作为等位基因丢失的一种分子标志。本文报告了1例5q~-异常患者,其同时患有系统性红斑狼疮(SLE)和相关的自身免疫性血小板减少症,且掩盖了5q~-综合征的典型特征。 患者,女,35岁。关节疼痛,反复头痛,视力障碍,脱发及雷诺氏现象6个月,因严重月经过多入
The long arm of chromosome 5 is missing, leading to a special form of myelodysplastic syndrome (MDS) with normal or elevated platelet count, known as 5q ~ - syndrome. The loss of the C-fms oncogene (CSF-1 receptor) is found at the DNA level, which is associated with the pathogenesis of this syndrome and can serve as a molecular marker for loss of alleles. This paper reports a case of 5q ~ - abnormal patients with both systemic lupus erythematosus (SLE) and associated autoimmune thrombocytopenia and masking the typical features of 5q ~ - syndrome. Patient, female, 35 years old. Joint pain, repeated headache, visual impairment, hair loss and Raynaud’s phenomenon for 6 months, due to severe menorrhagia into