每日一题_2023.08.24

A 73-year-old woman presented with a 2-day history of left flank pain. Findings from a physical examination were normal. Laboratory testing was notable for a platelet count of 652,000 per cubic millimeter (reference range, 150,000 to 400,000) with an otherwise normal complete blood count. No previous platelet count was available. Computed tomography of the abdomen with intravenous contrast material showed a filling defect in the left renal artery and a perfusion defect in the left renal cortex, consistent with an occlusive thrombosis of the left renal artery and associated renal infarction. Further testing revealed no evidence of cardioembolic disease, renal artery injury, or inherited thrombophilia. Genetic testing was positive for a genetic variant. Which of the following variants is most likely to be associated with the above findings?

患者女，73岁，因左侧腰痛2天就诊。体格检查结果正常。实验室检测是明显的血小板计数为652000 /立方毫米(参考范围,150000年至400000年),一个正常的完整的血细胞计数。既往无血小板计数。静脉注射造影剂的腹部计算机断层扫描显示左肾动脉充盈缺损，左肾皮质灌注缺损，与左肾动脉闭塞性血栓形成和相关肾梗死相符。进一步检查未发现心源性栓塞性疾病、肾动脉损伤或遗传性血栓形成倾向的证据。基因变异检测呈阳性。下面哪个变量是最有可能与上述结果?

A. BCR-ABL1 

B. CTLA4 

C. FLT3 

D. JAK2 

E. MYC

答案解析：

由于血小板计数持续升高，我们对JAK2 V617F变异进行了基因检测，结果为阳性。诊断为原发性血小板增多症。原发性血小板增多症可并发动脉或静脉血栓形成。此类患者的治疗目标是预防血管事件。开始羟基脲和阿司匹林治疗。2个月后随访，患者感觉良好，血小板计数正常。

正确答案：D